| Distinguishing pedigree relationships via multi-way identity by descent sharing and sex-specific genetic maps |
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| Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk |
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| UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism |
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| PLEIO: a method to map and interpret pleiotropic loci with GWAS summary statistics |
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| Rare and de novo coding variants in chromodomain genes in Chiari I malformation |
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| Host genetic effects in pneumonia |
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| Leveraging phenotypic variability to identify genetic interactions in human phenotypes |
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| So many Nigerians: why is Nigeria overrepresented as the ancestral genetic homeland of Legacy African North Americans? |
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| Response to Jackson |
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| Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability |
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| Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study |
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| Probabilistic colocalization of genetic variants from complex and molecular traits: promise and limitations |
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| SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling |
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| Failure to recombine is a common feature of human oogenesis |
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| Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy |
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| Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades |
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| This month in The Journal |
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| Welch-weighted Egger regression reduces false positives due to correlated pleiotropy in Mendelian randomization |
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| Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering |
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| Genomic medicine year in review: 2021 |
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| Describing human populations: An evolving picture in human genetics research |
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| Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome |
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| Improved pathogenicity prediction for rare human missense variants |
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| Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome |
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| H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility |
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| Bayesian model comparison for rare-variant association studies |
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| Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia |
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| Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial |
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| Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN |
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| Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics |
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| Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants |
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| Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization |
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| Integrative multiomics analysis highlights immune-cell regulatory mechanisms and shared genetic architecture for 14 immune-associated diseases and cancer outcomes |
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| Bonsai: An efficient method for inferring large human pedigrees from genotype data |
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| This month in The Journal |
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| Interpretable prioritization of splice variants in diagnostic next-generation sequencing |
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| Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders |
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| Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations |
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| Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans |
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| Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin |
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| Establishing risk of vision loss in Leber hereditary optic neuropathy |
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| Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome |
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| Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms |
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| Conceptualization of utility in translational clinical genomics research |
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| Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings |
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| Genetic overlap and causality between blood metabolites and migraine |
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| The National Academies’ Roundtable on Genomics and Precision Health: Where we have been and where we are heading |
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| Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss |
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| The risks of using unapproved gene symbols |
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| Revisiting the out of Africa event with a deep-learning approach |
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| Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals |
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| Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome |
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| SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype |
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| Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders |
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| This month in The Journal |
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| Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach |
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| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population |
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✓ |
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Turkish population |
| ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies |
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| Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program |
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| An integrated approach to identify environmental modulators of genetic risk factors for complex traits |
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| A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer |
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| Improved pathogenicity prediction for rare human missense variants |
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| Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene |
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| Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network |
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| This month in The Journal |
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| Response to Hamosh et al. |
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| Fast two-stage phasing of large-scale sequence data |
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| Response to Biesecker et al. |
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| Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia |
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| COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay |
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| Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression |
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| Position effects at the FGF8 locus are associated with femoral hypoplasia |
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| Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis |
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| Robust genetic nurture effects on education: A systematic review and meta-analysis based on 38,654 families across 8 cohorts |
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| Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population |
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| Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus |
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| Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders |
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| A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk |
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| This month in The Journal |
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| A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR |
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| The omnigenic model and polygenic prediction of complex traits |
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| Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution |
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| Massively parallel characterization of CYP2C9 variant enzyme activity and abundance |
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| TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila |
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| Anatomy of DNA methylation signatures: Emerging insights and applications |
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| Interpretable prioritization of splice variants in diagnostic next-generation sequencing |
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| Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms |
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| High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency |
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| Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm |
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| Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations |
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| Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration |
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| Genome-wide association study reveals an association between the HLA-DPB1∗02:01:02 allele and wheat-dependent exercise-induced anaphylaxis |
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| New approaches to predict the effect of co-occurring variants on protein characteristics |
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| Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function |
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| Optical genome mapping enables constitutional chromosomal aberration detection |
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| Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice |
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| Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping |
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| Targeted long-read sequencing identifies missing disease-causing variation |
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| Nonsense-mediated decay is highly stable across individuals and tissues |
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| Genomic partitioning of inbreeding depression in humans |
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| Shifting landscapes of human MTHFR missense-variant effects |
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| Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy |
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| This month in The Journal |
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| Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects |
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| Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia |
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| Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders |
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| Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element |
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| Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation |
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| Summix: A method for detecting and adjusting for population structure in genetic summary data |
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| Exome variant discrepancies due to reference-genome differences |
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| De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy |
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| Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders |
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| Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals |
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| Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program |
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| A form of muscular dystrophy associated with pathogenic variants in JAG2 |
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| This month in The Journal |
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| Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care |
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| Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology |
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| Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA |
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| Mutations in TP73 cause impaired mucociliary clearance and lissencephaly |
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| Genetic effects on liver chromatin accessibility identify disease regulatory variants |
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| Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy |
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| Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms |
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| Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder |
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| A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity |
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| A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 |
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| Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation |
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| Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism |
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| Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome |
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|
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| Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder |
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| Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction |
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| A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction |
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| 2020 McKusick Award address |
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| Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals |
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| Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy |
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| This month in The Journal |
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| EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies |
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| Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals |
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| Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism |
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| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature |
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| Impaired cholesterol efflux in retinal pigment epithelium of individuals with juvenile macular degeneration |
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| Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities |
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| Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation |
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| Engagement and return of results preferences among a primarily African American genomic sequencing research cohort |
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| Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program |
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| A form of muscular dystrophy associated with pathogenic variants in JAG2 |
|
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| Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes |
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| Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals |
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| Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder |
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| 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? |
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| Quantifying the contribution of dominance deviation effects to complex trait variation in biobank-scale data |
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| Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease |
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| Opportunities and challenges for the computational interpretation of rare variation in clinically important genes |
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| Association of structural variation with cardiometabolic traits in Finns |
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| This month in The Journal |
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| A catalog of GWAS fine-mapping efforts in autoimmune disease |
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| Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes |
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| Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies |
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| Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression |
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| A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits |
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| Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations |
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| Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm |
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| The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects |
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✓ |
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European populations |
| Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation |
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| A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome |
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| Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassemia |
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| A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank |
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| Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry |
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African ancestry |
| Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy |
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| Negative selection on complex traits limits phenotype prediction accuracy between populations |
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| De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families |
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| Rare and de novo coding variants in chromodomain genes in Chiari I malformation |
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| Age dependency of the polygenic risk score for colorectal cancer |
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| 2020 William Allan Award address: genetics as a way of thinking—cultural inheritance from our teachers |
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| 2020 Curt Stern Award address: a more perfect clinical genome—how consanguineous populations contribute to the medical annotation of the human genome |
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| 2020 William Allan Award introduction: Mary-Claire King |
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| How science will help us move forward in 2021 |
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| This month in The Journal |
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| 2020 ASHG awards and addresses |
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| ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya |
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| Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years |
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| Response to Li and Hopper |
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| 2020 ASHG presidential address: the ‘BIG TENT’ of genetics/genomics and our world |
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| Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis |
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| Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease |
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| Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice |
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| Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance |
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| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females |
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| Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation |
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| Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease |
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| Genetic control of the human brain proteome |
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| Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability |
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| Albert de la Chapelle (1933–2020) |
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| Rare and de novo coding variants in chromodomain genes in Chiari I malformation |
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| The diagnostic odyssey: our family’s story |
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| Recognizing those who deal with rare disease every day |
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| HiC-ACT: improved detection of chromatin interactions from Hi-C data via aggregated Cauchy test |
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| This month in The Journal |
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| Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction |
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| Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model |
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| De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis |
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| Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans |
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| Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility |
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| Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome |
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| Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies |
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| Multi-trait transcriptome-wide association studies with probabilistic Mendelian randomization |
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| Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis |
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| This month in The Journal |
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| A dyadic approach to the delineation of diagnostic entities in clinical genomics |
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| De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy |
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| The genomics workforce must become more diverse: a strategic imperative |
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