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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet 52, 969-983 (2020).
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nat Genet 52, 1145-1150 (2020).
Identification of cancer driver genes based on nucleotide context. Nat Genet 52, 208-218 (2020).
Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. Mol Biol Evol 36, 1701-1710 (2019).
Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations. Nat Genet 51, 36-41 (2019).
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife 8, (2019).
Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet 49, 806-810 (2017).
Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types. Nat Genet 49, 600-605 (2017).
Negative selection in humans and fruit flies involves synergistic epistasis. Science 356, 539-542 (2017).