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