Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386949831> ?p ?o ?g. }
- W4386949831 abstract "Abstract Little is known about the role of noncoding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of noncoding regions: Human Accelerated Regions (HARs), which show signatures of positive selection in humans; experimentally validated neural Vista Enhancers (VEs); and conserved regions predicted to act as neural enhancers (CNEs). Targeted and whole genome analysis of >16,600 samples and >4900 ASD probands revealed that likely recessive, rare, inherited variants in HARs, VEs, and CNEs substantially contribute to ASD risk in probands whose parents share ancestry, which enriches for recessive contributions, but modestly, if at all, in simplex family structures. We identified multiple patient variants in HARs near IL1RAPL1 and in a VE near SIM1 and showed that they change enhancer activity. Our results implicate both human-evolved and evolutionarily conserved noncoding regions in ASD risk and suggest potential mechanisms of how changes in regulatory regions can modulate social behavior." @default.
- W4386949831 created "2023-09-23" @default.
- W4386949831 creator A5001621049 @default.
- W4386949831 creator A5001941562 @default.
- W4386949831 creator A5004249487 @default.
- W4386949831 creator A5004738039 @default.
- W4386949831 creator A5017548821 @default.
- W4386949831 creator A5023457836 @default.
- W4386949831 creator A5031716064 @default.
- W4386949831 creator A5038600472 @default.
- W4386949831 creator A5050687510 @default.
- W4386949831 creator A5051868380 @default.
- W4386949831 creator A5054011540 @default.
- W4386949831 creator A5055290442 @default.
- W4386949831 creator A5070523900 @default.
- W4386949831 creator A5073763802 @default.
- W4386949831 creator A5088808216 @default.
- W4386949831 creator A5090376549 @default.
- W4386949831 creator A5092920719 @default.
- W4386949831 creator A5092920720 @default.
- W4386949831 date "2023-09-22" @default.
- W4386949831 modified "2023-10-16" @default.
- W4386949831 title "Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk" @default.
- W4386949831 cites W1566720158 @default.
- W4386949831 cites W1613369435 @default.
- W4386949831 cites W1919257374 @default.
- W4386949831 cites W1967157541 @default.
- W4386949831 cites W1967814408 @default.
- W4386949831 cites W1971321176 @default.
- W4386949831 cites W1974353811 @default.
- W4386949831 cites W1979208523 @default.
- W4386949831 cites W1979594866 @default.
- W4386949831 cites W1980511577 @default.
- W4386949831 cites W1984996211 @default.
- W4386949831 cites W1985470174 @default.
- W4386949831 cites W1986803878 @default.
- W4386949831 cites W1996013133 @default.
- W4386949831 cites W1996141957 @default.
- W4386949831 cites W1999595280 @default.
- W4386949831 cites W2008250073 @default.
- W4386949831 cites W2008627757 @default.
- W4386949831 cites W2011582941 @default.
- W4386949831 cites W2011601616 @default.
- W4386949831 cites W2014760588 @default.
- W4386949831 cites W2015213948 @default.
- W4386949831 cites W2019161989 @default.
- W4386949831 cites W2020319451 @default.
- W4386949831 cites W2023291869 @default.
- W4386949831 cites W2024439539 @default.
- W4386949831 cites W2028896791 @default.
- W4386949831 cites W2030601923 @default.
- W4386949831 cites W2033201031 @default.
- W4386949831 cites W2035618305 @default.
- W4386949831 cites W2036841261 @default.
- W4386949831 cites W2036897871 @default.
- W4386949831 cites W2038473742 @default.
- W4386949831 cites W2045337334 @default.
- W4386949831 cites W2048128721 @default.
- W4386949831 cites W2059216629 @default.
- W4386949831 cites W2066036073 @default.
- W4386949831 cites W2066779634 @default.
- W4386949831 cites W2070021921 @default.
- W4386949831 cites W2076154138 @default.
- W4386949831 cites W2080477348 @default.
- W4386949831 cites W2082036307 @default.
- W4386949831 cites W2085384621 @default.
- W4386949831 cites W2092875068 @default.
- W4386949831 cites W2097795961 @default.
- W4386949831 cites W2098218556 @default.
- W4386949831 cites W2098573707 @default.
- W4386949831 cites W2102619694 @default.
- W4386949831 cites W2102702746 @default.
- W4386949831 cites W2103189755 @default.
- W4386949831 cites W2103441770 @default.
- W4386949831 cites W2105896832 @default.
- W4386949831 cites W2108234281 @default.
- W4386949831 cites W2108994842 @default.
- W4386949831 cites W2113221334 @default.
- W4386949831 cites W2115168554 @default.
- W4386949831 cites W2118202495 @default.
- W4386949831 cites W2119907069 @default.
- W4386949831 cites W2126867710 @default.
- W4386949831 cites W2127003470 @default.
- W4386949831 cites W2127608175 @default.
- W4386949831 cites W2129873641 @default.
- W4386949831 cites W2133209165 @default.
- W4386949831 cites W2133663604 @default.
- W4386949831 cites W2138207763 @default.
- W4386949831 cites W2138625258 @default.
- W4386949831 cites W2145191876 @default.
- W4386949831 cites W2146120203 @default.
- W4386949831 cites W2148105023 @default.
- W4386949831 cites W2148114118 @default.
- W4386949831 cites W2149440805 @default.
- W4386949831 cites W2150131459 @default.
- W4386949831 cites W2151210208 @default.
- W4386949831 cites W2152156139 @default.
- W4386949831 cites W2152505144 @default.
- W4386949831 cites W2158778721 @default.
- W4386949831 cites W2168950294 @default.