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Nat Genet DOI:10.1038/s41588-018-0231-8

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

Publication TypeJournal Article
Year of Publication2018
AuthorsGazal, S, Loh, P-R, Finucane, HK, Ganna, A, Schoech, A, Sunyaev, S, Price, AL
JournalNat Genet
Volume50
Issue11
Pages1600-1607
Date Published2018 11
ISSN1546-1718
KeywordsAlleles, Biological Specimen Banks, European Continental Ancestry Group, Gene Frequency, Genetic Variation, Genetics, Population, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Molecular Sequence Annotation, Open Reading Frames, Polymorphism, Single Nucleotide, Selection, Genetic, United Kingdom
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

DOI10.1038/s41588-018-0231-8
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/30297966?dopt=Abstract

Alternate JournalNat. Genet.
PubMed ID30297966
PubMed Central IDPMC6236676
Grant ListMC_QA137853 / / Medical Research Council / United Kingdom
U01 HG009379 / HG / NHGRI NIH HHS / United States
R01 MH107649 / MH / NIMH NIH HHS / United States
R01 MH101244 / MH / NIMH NIH HHS / United States
U01 HG009088 / HG / NHGRI NIH HHS / United States
R01 MH109978 / MH / NIMH NIH HHS / United States