| A missense variant effect map for the human tumor-suppressor protein CHK2 |
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| This month in The Journal |
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| Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial |
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| Genomic medicine year in review: 2024 |
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| Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection |
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| The methylomic landscape of human articular cartilage development contains epigenetic signatures of osteoarthritis risk |
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| Primary cartilage transcriptional signatures reflect cell-type-specific molecular pathways underpinning osteoarthritis |
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| Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research |
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| Inherited infertility: Mapping loci associated with impaired female reproduction |
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| The PRIMED Consortium: Reducing disparities in polygenic risk assessment |
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| Comparative analysis of predicted DNA secondary structures infers complex human centromere topology |
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| Toward trustable use of machine learning models of variant effects in the clinic |
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| Monoallelic pathogenic variants in LEPR do not cause obesity |
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| Allele frequency impacts the cross-ancestry portability of gene expression prediction in lymphoblastoid cell lines |
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| Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating |
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| Proteome-wide Mendelian randomization and functional studies uncover therapeutic targets for polycystic ovarian syndrome |
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| Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly |
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| An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns |
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| This month in The Journal |
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| Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions |
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| GPS-Net: Discovering prognostic pathway modules based on network regularized kernel learning |
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| 3D genome topology distinguishes molecular subgroups of medulloblastoma |
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| Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia |
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| Genetic liability estimated from large-scale family data improves genetic prediction, risk score profiling, and gene mapping for major depression |
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| Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags |
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| Inverse relationship between polygenic risk burden and age of onset of autoimmune vitiligo |
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| MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway |
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| Where is the boundary of the human pseudoautosomal region? |
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| Profiling genetically driven alternative splicing across the Indonesian archipelago |
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| Recognizing trainees: The AJHG Award for Outstanding Trainee Publication |
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| Joint testing of rare variant burden scores using non-negative least squares |
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| This month in The Journal |
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| Cross-ancestry analysis of brain QTLs enhances interpretation of schizophrenia genome-wide association studies |
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| Modeling recent positive selection using identity-by-descent segments |
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| Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS |
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| Phenotypic spectrum of dual diagnoses in developmental disorders |
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| Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants |
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| Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs |
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| The pleiotropic spectrum of proximal 16p11.2 CNVs |
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| Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants |
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| Toward building a comprehensive human pan-genome: The SEN-GENOME project |
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| Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia |
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| Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis |
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| International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review |
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| The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants |
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| Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer |
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| Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies |
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✓ |
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homogeneous ancestry groups |
| Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism |
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| Genetic modifiers of body mass index in individuals with cystic fibrosis |
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| Assessing the utility of large language models for phenotype-driven gene prioritization in the diagnosis of rare genetic disease |
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| The methodological and ethical concerns of genetic studies of same-sex sexual behavior |
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| All of Us Research Program year in review: 2023–2024 |
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| A new annual feature of AJHG: All of Us Research Program year in review |
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| Implementation of a dyadic nomenclature for monogenic diseases |
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| This Month in The Journal |
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| Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness |
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| Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications |
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| Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa |
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| ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification |
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| SpliceVarDB: A comprehensive database of experimentally validated human splicing variants |
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| Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression |
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| Genes with differential expression across ancestries are enriched in ancestry-specific disease effects likely due to gene-by-environment interactions |
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| Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias |
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| Genetics of cell-type-specific post-transcriptional gene regulation during human neurogenesis |
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| Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling |
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| Liver eQTL meta-analysis illuminates potential molecular mechanisms of cardiometabolic traits |
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| Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes |
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| Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel |
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| Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions |
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| Genetic effects on the skin methylome in healthy older twins |
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| Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma |
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| This Month in The Journal |
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| SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline |
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| A novel multivariable Mendelian randomization framework to disentangle highly correlated exposures with application to metabolomics |
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| Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder |
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| Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset |
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| Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations |
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| RNA variant assessment using transactivation and transdifferentiation |
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| Omnibus proteome-wide association study identifies 43 risk genes for Alzheimer disease dementia |
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| Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain |
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| Long-read proteogenomics to connect disease-associated sQTLs to the protein isoform effectors of disease |
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| Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics |
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| Ornaments for efficient allele-specific expression estimation with bias correction |
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| De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder |
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| An integrative multi-context Mendelian randomization method for identifying risk genes across human tissues |
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| Inferring causal direction between two traits using R2 with application to transcriptome-wide association studies |
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| Misexpression of inactive genes in whole blood is associated with nearby rare structural variants |
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| Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation |
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| JASPER: Fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression |
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| Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome |
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| Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes |
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| Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B |
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| Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa |
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| The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics |
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| The 2023 Distinguished Speakers Symposium: Closing Remarks |
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| From complete genomes to pangenomes |
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| This Month in The Journal |
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| Exploring the noncoding genome with chromosomal structural rearrangements |
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| The DARC side of genetics in cancer: Breast cancer disparities |
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| Eugenics and the misuse of Mendel |
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| Ensuring best practice in genomics education: A scoping review of genomics education needs assessments and evaluations |
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| Ensuring best practice in genomics education: A theory- and empirically informed evaluation framework |
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| Splicing-specific transcriptome-wide association uncovers genetic mechanisms for schizophrenia |
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| A transcriptomic atlas of the human brain reveals genetically determined aspects of neuropsychiatric health |
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| GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas |
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| High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility |
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| Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes |
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| Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning |
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| Identification and correction for collider bias in a genome-wide association study of diabetes-related heart failure |
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| Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia |
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| Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita |
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| A scalable and robust variance components method reveals insights into the architecture of gene-environment interactions underlying complex traits |
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| PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response |
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| This Month in The Journal |
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| CanCellVar: A database for single-cell variants map in human cancer |
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| The impact of clinical genome sequencing in a global population with suspected rare genetic disease |
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| Impact of genome build on RNA-seq interpretation and diagnostics |
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| KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies |
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| Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease |
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| MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature |
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| Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants |
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| The impact of inversions across 33,924 families with rare disease from a national genome sequencing project |
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| Oral and non-oral lichen planus show genetic heterogeneity and differential risk for autoimmune disease and oral cancer |
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| Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity |
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| Genome-wide DNA methylation changes in human spermatogenesis |
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| An integrative framework to prioritize genes in more than 500 loci associated with body mass index |
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| Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation |
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| De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features |
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| Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington disease |
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| Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect |
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| A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer |
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| Cis- and trans-eQTL TWASs of breast and ovarian cancer identify more than 100 susceptibility genes in the BCAC and OCAC consortia |
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| Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions |
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| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 |
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| shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores |
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| A powerful approach to identify replicable variants in genome-wide association studies |
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| This Month in The Journal |
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| Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues |
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| Association between telomere length and Plasmodium falciparum malaria endemicity in sub-Saharan Africans |
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| Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |
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| Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype |
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| Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network |
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| Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis |
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| Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds |
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| MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric |
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| Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations |
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| CAG repeat mosaicism is gene specific in spinocerebellar ataxias |
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| A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens |
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| Toward clinical exomes in diagnostics and management of male infertility |
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| A new test for trait mean and variance detects unreported loci for blood-pressure variation |
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| Imputation accuracy across global human populations |
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| The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing |
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| Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors |
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| Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase |
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| This Month in The Journal |
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| Many roads to a gene-environment interaction |
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| Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease |
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| De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features |
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| Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads |
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| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 |
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| Biobank-scale inference of multi-individual identity by descent and gene conversion |
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| Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic |
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| Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation |
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| Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome |
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| The association of cigarette smoking with DNA methylation and gene expression in human tissue samples |
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| Estimating disease heritability from complex pedigrees allowing for ascertainment and covariates |
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| Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications |
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| De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features |
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| Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting |
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| 2023 ASHG Scientific Achievement Award: Molly Przeworski |
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| 2023 ASHG Leadership Award |
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| 2023 ASHG awards and addresses |
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| 2023 ASHG Lifetime Achievement Award: Neil Risch |
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| 2023 ASHG Scientific Achievement Award |
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| 2023 ASHG Leadership Award: Nancy Cox |
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| This Month in The Journal |
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| 2023 ASHG presidential address—Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future |
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| STIGMA: Single-cell tissue-specific gene prioritization using machine learning |
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| 2023 ASHG Lifetime Achievement Award: “If you want to go fast, go alone; if you want to go far, go together” |
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| Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models |
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| Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy |
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| Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain |
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| Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability |
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| De novo variants in DENND5B cause a neurodevelopmental disorder |
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| Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA |
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| Epigenome-wide association study of total nicotine equivalents in multiethnic current smokers from three prospective cohorts |
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| The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function |
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| The cells of the sensory epithelium, and not the stria vascularis, are the main cochlear cells related to the genetic pathogenesis of age-related hearing loss |
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| Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt |
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| Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits |
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| Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing |
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| This Month in The Journal |
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| Cell-type deconvolution of bulk-blood RNA-seq reveals biological insights into neuropsychiatric disorders |
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| Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants |
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| CRISPR activation to characterize splice-altering variants in easily accessible cells |
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| Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction |
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| Role of CAMK2D in neurodevelopment and associated conditions |
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| Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements |
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| A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy |
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| Regulatory features aid interpretation of 3′UTR variants |
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| Adaptation of a mutual exclusivity framework to identify driver mutations within oncogenic pathways |
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| The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK |
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✓ |
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ancestry |
| STIGMA: Single-cell tissue-specific gene prioritization using machine learning |
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| A comprehensive analysis of clinical and polygenic germline influences on somatic mutational burden |
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| Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis |
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| 75 years of The American Journal of Human Genetics |
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| omicSynth: An open multi-omic community resource for identifying druggable targets across neurodegenerative diseases |
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| A Bayesian approach to Mendelian randomization using summary statistics in the univariable and multivariable settings with correlated pleiotropy |
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| Genetic determinants of IgG antibody response to COVID-19 vaccination |
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| Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine |
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| An interactive atlas of three-dimensional syndromic facial morphology |
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| Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects |
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| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 |
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| This Month in The Journal |
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| A Bayesian fine-mapping model using a continuous global-local shrinkage prior with applications in prostate cancer analysis |
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| A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes |
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| A statistical method for image-mediated association studies discovers genes and pathways associated with four brain disorders |
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| Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome |
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| ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification |
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| Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases |
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| Will variants of uncertain significance still exist in 2030? |
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| Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease |
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