Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.

Nat Genet

Authors	Steven Gazal Po-Ru Loh Hilary Finucane Andrea Ganna Armin Schoech Shamil Sunyaev Alkes Price
Keywords	Humans Alleles Gene Frequency Genome-Wide Association Study Polymorphism, Single Nucleotide Genetic Variation Linkage Disequilibrium Molecular Sequence Annotation Genetics, Population Selection, Genetic Open Reading Frames United Kingdom Biological Specimen Banks Whites
Abstract	Common variant heritability has been widely reported to be concentrated in variants within cell-type-specific non-coding functional annotations, but little is known about low-frequency variant functional architectures. We partitioned the heritability of both low-frequency (0.5%≤ minor allele frequency
Year of Publication	2018
Journal	Nat Genet
Volume	50
Issue	11
Pages	1600-1607
Date Published	2018 11
ISSN	1546-1718
DOI	10.1038/s41588-018-0231-8
PubMed ID	30297966
PubMed Central ID	PMC6236676
Links	PubMed DOI Google Scholar
Grant list	MC_QA137853 / MRC_ / Medical Research Council / United Kingdom K99 HG010160 / HG / NHGRI NIH HHS / United States U01 HG009379 / HG / NHGRI NIH HHS / United States R01 MH107649 / MH / NIMH NIH HHS / United States R01 MH109978 / MH / NIMH NIH HHS / United States MC_PC_17228 / MRC_ / Medical Research Council / United Kingdom R01 MH101244 / MH / NIMH NIH HHS / United States U01 HG009088 / HG / NHGRI NIH HHS / United States