Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308654581> ?p ?o ?g. }
- W4308654581 abstract "Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 from SPARK) and 31,052 DD trios independently and also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery rate [FDR] < 0.05) supported by ≥1 models, including 138 reaching Bonferroni exome-wide significance ( P < 3.64e–7) in all models. The genes group into five functional networks associating with different brain developmental lineages based on single-cell nuclei transcriptomic data. We find no evidence for ASD-specific genes in contrast to 18 genes significantly enriched for DD. There are 53 genes that show mutational bias, including enrichments for missense ( n = 41) or truncating ( n = 12) DNVs. We also find 10 genes with evidence of male- or female-bias enrichment, including 4 X chromosome genes with significant female burden ( DDX3X , MECP2 , WDR45 , and HDAC8) . This large-scale integrative analysis identifies candidates and functional subsets of NDD genes." @default.
- W4308654581 created "2022-11-13" @default.
- W4308654581 creator A5000548013 @default.
- W4308654581 creator A5002111804 @default.
- W4308654581 creator A5003709944 @default.
- W4308654581 creator A5004109795 @default.
- W4308654581 creator A5004417421 @default.
- W4308654581 creator A5006507082 @default.
- W4308654581 creator A5006546588 @default.
- W4308654581 creator A5006622650 @default.
- W4308654581 creator A5006765468 @default.
- W4308654581 creator A5006993209 @default.
- W4308654581 creator A5008010752 @default.
- W4308654581 creator A5008111766 @default.
- W4308654581 creator A5008174992 @default.
- W4308654581 creator A5008412432 @default.
- W4308654581 creator A5008511381 @default.
- W4308654581 creator A5009610542 @default.
- W4308654581 creator A5009614153 @default.
- W4308654581 creator A5009687312 @default.
- W4308654581 creator A5010079622 @default.
- W4308654581 creator A5010234242 @default.
- W4308654581 creator A5010584455 @default.
- W4308654581 creator A5011311359 @default.
- W4308654581 creator A5011406364 @default.
- W4308654581 creator A5012860439 @default.
- W4308654581 creator A5013118838 @default.
- W4308654581 creator A5013134939 @default.
- W4308654581 creator A5013977738 @default.
- W4308654581 creator A5014429025 @default.
- W4308654581 creator A5014870107 @default.
- W4308654581 creator A5015518334 @default.
- W4308654581 creator A5015814711 @default.
- W4308654581 creator A5016953572 @default.
- W4308654581 creator A5017237436 @default.
- W4308654581 creator A5017730047 @default.
- W4308654581 creator A5018518196 @default.
- W4308654581 creator A5018518680 @default.
- W4308654581 creator A5018722278 @default.
- W4308654581 creator A5019512842 @default.
- W4308654581 creator A5019667857 @default.
- W4308654581 creator A5020210427 @default.
- W4308654581 creator A5020226243 @default.
- W4308654581 creator A5020579620 @default.
- W4308654581 creator A5020936739 @default.
- W4308654581 creator A5021304368 @default.
- W4308654581 creator A5021390254 @default.
- W4308654581 creator A5021652579 @default.
- W4308654581 creator A5021897642 @default.
- W4308654581 creator A5022460685 @default.
- W4308654581 creator A5023072165 @default.
- W4308654581 creator A5024184945 @default.
- W4308654581 creator A5024869315 @default.
- W4308654581 creator A5024912436 @default.
- W4308654581 creator A5024970136 @default.
- W4308654581 creator A5025057760 @default.
- W4308654581 creator A5025453249 @default.
- W4308654581 creator A5025660107 @default.
- W4308654581 creator A5026646617 @default.
- W4308654581 creator A5026686818 @default.
- W4308654581 creator A5027460647 @default.
- W4308654581 creator A5028442140 @default.
- W4308654581 creator A5028637313 @default.
- W4308654581 creator A5029378448 @default.
- W4308654581 creator A5029386382 @default.
- W4308654581 creator A5029662319 @default.
- W4308654581 creator A5029994229 @default.
- W4308654581 creator A5030590740 @default.
- W4308654581 creator A5031803480 @default.
- W4308654581 creator A5033032668 @default.
- W4308654581 creator A5034216413 @default.
- W4308654581 creator A5035982714 @default.
- W4308654581 creator A5037231847 @default.
- W4308654581 creator A5037749785 @default.
- W4308654581 creator A5038420496 @default.
- W4308654581 creator A5038994451 @default.
- W4308654581 creator A5039261129 @default.
- W4308654581 creator A5039366746 @default.
- W4308654581 creator A5039631481 @default.
- W4308654581 creator A5039641591 @default.
- W4308654581 creator A5040032939 @default.
- W4308654581 creator A5043037322 @default.
- W4308654581 creator A5044031799 @default.
- W4308654581 creator A5044457835 @default.
- W4308654581 creator A5044827991 @default.
- W4308654581 creator A5044833087 @default.
- W4308654581 creator A5044944948 @default.
- W4308654581 creator A5045769815 @default.
- W4308654581 creator A5046269715 @default.
- W4308654581 creator A5047161455 @default.
- W4308654581 creator A5047538799 @default.
- W4308654581 creator A5048018226 @default.
- W4308654581 creator A5048877144 @default.
- W4308654581 creator A5048944717 @default.
- W4308654581 creator A5049005208 @default.
- W4308654581 creator A5050064071 @default.
- W4308654581 creator A5050928185 @default.
- W4308654581 creator A5051597447 @default.
- W4308654581 creator A5052438867 @default.
- W4308654581 creator A5053979578 @default.