| A minimal role for synonymous variation in human disease |
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| Genomic Medicine Year in Review: 2022 |
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| Consequences of chromosome gain: A new view on trisomy syndromes |
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| This month in The Journal |
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| Addressing the challenges of polygenic scores in human genetic research |
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| Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor |
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| Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity |
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| Understanding changes in genetic literacy over time and in genetic research participants |
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| Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria |
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| A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism |
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| A scoping review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement |
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| TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions |
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| Estimating the genome-wide mutation rate from thousands of unrelated individuals |
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| Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics |
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European-ancestry; Asian |
| EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis |
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| Systematic comparison of family history and polygenic risk across 24 common diseases |
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| Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation |
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| Response to Eura et al. |
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| RILPL1-related OPDM is absent in a Japanese cohort |
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| Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery |
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| This month in The Journal |
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| The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability |
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| A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure |
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| Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder |
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| Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models |
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| Liability-scale heritability estimation for biobank studies of low-prevalence disease |
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| Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts |
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| The construction of cross-population polygenic risk scores using transfer learning |
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| Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy |
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| Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis |
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| De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement |
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| FastRNA: An efficient solution for PCA of single-cell RNA-sequencing data based on a batch-accounting count model |
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| This month in The Journal |
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| Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction |
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| MagicalRsq: Machine-learning-based genotype imputation quality calibration |
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| A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes |
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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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| ExPRSweb: An online repository with polygenic risk scores for common health-related exposures |
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| The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans |
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| KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design |
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| An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome |
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| GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy |
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| Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia |
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| The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability |
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| Social and scientific motivations to move beyond groups in allele frequencies: The TOPMed experience |
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| Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder |
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| Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies |
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| Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk |
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| Statement on storage and use of genetic materials |
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| This month in The Journal |
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| Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement |
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| On the reproductive capabilities of aneuploid human preimplantation embryos |
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| Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa |
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| Addressing underrepresentation in genomics research through community engagement |
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| Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly |
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| A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases |
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| Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations |
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| OARD: Open annotations for rare diseases and their phenotypes based on real-world data |
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| Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing |
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| A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode |
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| Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants |
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| A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids |
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| “Choice of law” in precision medicine research |
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| Natural Selection Shapes Codon Usage in the Human Genome |
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| Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons |
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| Multi-ancestry fine-mapping improves precision to identify causal genes in transcriptome-wide association studies |
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| Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita |
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| Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact |
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| This month in The Journal |
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| ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model |
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| Simultaneous inference of parental admixture proportions and admixture times from unphased local ancestry calls |
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| Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA |
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| Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis |
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| Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder |
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| Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications |
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| Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure |
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| Response to Lee et al. |
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| Investigating the shared genetic architecture of uterine leiomyoma and breast cancer: A genome-wide cross-trait analysis |
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| Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration |
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| Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study |
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| This month in The Journal |
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| C. Thomas Caskey, M.D. (1938–2022): A remembrance |
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| Digital health-enabled genomics: Opportunities and challenges |
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| Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans |
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| Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits |
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| Leveraging the local genetic structure for trans-ancestry association mapping |
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| The impact of anorexia nervosa and BMI polygenic risk on childhood growth: A 20-year longitudinal population-based study |
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| Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population |
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| A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2 |
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| A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome |
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| Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome |
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| An epigenome-wide view of osteoarthritis in primary tissues |
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| Genotype error biases trio-based estimates of haplotype phase accuracy |
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| This month in The Journal |
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| Is there a way to reduce the inequity in variant interpretation on the basis of ancestry? |
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| The importance of universal ethical standards in science |
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| Closing the loop: Editors' feedback on the ASHG readership survey |
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| Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions |
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| Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study |
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| A spectrum of recessiveness among Mendelian disease variants in UK Biobank |
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| A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits |
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| Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes |
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| Integration of rare expression outlier-associated variants improves polygenic risk prediction |
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| Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss |
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| Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis |
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| Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites |
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| The immunogenetics of viral antigen response is associated with subtype-specific glioma risk and survival |
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| Response to Mörseburg et al. |
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| Analyzing and reconciling colocalization and transcriptome-wide association studies from the perspective of inferential reproducibility |
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| This month in The Journal |
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| Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation |
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| Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes |
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| Meta-imputation: An efficient method to combine genotype data after imputation with multiple reference panels |
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| TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data |
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| Shared components of heritability across genetically correlated traits |
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| Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches |
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| Germline MBD4 deficiency causes a multi-tumor predisposition syndrome |
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| Powerful and robust inference of complex phenotypes' causal genes with dependent expression quantitative loci by a median-based Mendelian randomization |
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| Leveraging LD eigenvalue regression to improve the estimation of SNP heritability and confounding inflation |
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| A genealogical estimate of genetic relationships |
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| Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk |
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| Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations |
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| Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program |
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| Walter Elmore Nance (1933–2021) |
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| Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome |
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| De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy |
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| This month in The Journal |
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| Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation |
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| Polygenic risk for prostate cancer: Decreasing relative risk with age but little impact on absolute risk |
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| De novo variants in ATP2B1 lead to neurodevelopmental delay |
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| METRO: Multi-ancestry transcriptome-wide association studies for powerful gene-trait association detection |
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| Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries |
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| Genetic modifiers of Huntington disease differentially influence motor and cognitive domains |
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| Family history aggregation unit-based tests to detect rare genetic variant associations with application to the Framingham Heart Study |
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| Inferring population structure in biobank-scale genomic data |
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| RAREsim: A simulation method for very rare genetic variants |
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| Familial long-read sequencing increases yield of de novo mutations |
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| Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes |
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| Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits |
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| The genomic signatures of natural selection in admixed human populations |
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| 2021 Allan Award |
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| This month in The Journal |
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| Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy |
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| 2021 McKusick Leadership Award: Learning from communities |
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| 2021 ASHG awards and addresses |
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| 2021 Curt Stern Award: Studying the biology of “junk” |
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| 2021 ASHG presidential address—Imagination and daring: Past, present, and future |
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| The annual ASHG dinner |
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| Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures |
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| The individual and global impact of copy-number variants on complex human traits |
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| A multi-dimensional integrative scoring framework for predicting functional variants in the human genome |
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| Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services |
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| Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome |
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| Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism |
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| THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder |
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| The functional impact of BRCA1 BRCT domain variants using multiplexed DNA double-strand break repair assays |
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| GWAS of longitudinal trajectories at biobank scale |
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| Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia |
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| A functional genomics approach in Tanzanian population identifies distinct genetic regulators of cytokine production compared to European population |
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✓ |
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European population |
| The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4 |
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| Partitioning gene-mediated disease heritability without eQTLs |
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| Accounting for age of onset and family history improves power in genome-wide association studies |
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| Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity |
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| Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity |
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| This month in The Journal |
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| Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort |
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| Leveraging gene co-regulation to identify gene sets enriched for disease heritability |
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| Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity |
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| Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity |
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| Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes |
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| Trans-ancestral fine-mapping of MHC reveals key amino acids associated with spontaneous clearance of hepatitis C in HLA-DQβ1 |
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| Midbrain organoids mimic early embryonic neurodevelopment and recapitulate LRRK2-p.Gly2019Ser-associated gene expression |
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| A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features |
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| Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder |
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| A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus |
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| MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease |
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| Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder |
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| PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning |
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| StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants |
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| The genetic architecture of pediatric cardiomyopathy |
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| This month in The Journal |
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| Stephen T. Warren, Ph.D. (1953–2021): A remembrance |
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| Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits |
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| Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort |
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| Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion |
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| Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer |
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| Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease |
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| Overcoming constraints on the detection of recessive selection in human genes from population frequency data |
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| Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes |
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| Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice |
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| Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries |
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| Estrogen receptor alpha and NFATc1 bind to a bone mineral density-associated SNP to repress WNT5B in osteoblasts |
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| Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype |
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| Fast estimation of genetic correlation for biobank-scale data |
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