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Filters: Keyword is Genetic Variation [Clear All Filters]
Genome-wide profiling of heritable and de novo STR variations. Nat Methods 14, 590-592 (2017).
Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
The impact of sex on gene expression across human tissues. Science 369, (2020).
Quantifying the regulatory effect size of -acting genetic variation using allelic fold change. Genome Res 27, 1872-1884 (2017).
Concerted Genetic Function in Blood Traits. Cell 167, 1167-1169 (2016).
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data. Nat Genet 49, 618-624 (2017).
Genetics of schizophrenia in the South African Xhosa. Science 367, 569-573 (2020).
Genetic effects on gene expression across human tissues. Nature 550, 204-213 (2017).
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. Nat Commun 9, 1613 (2018).
Determinants of telomere length across human tissues. Science 369, (2020).
A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
The impact of structural variation on human gene expression. Nat Genet 49, 692-699 (2017).
Genetic association studies in cardiovascular diseases: Do we have enough power?. Trends Cardiovasc Med 27, 397-404 (2017).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).