Matches in SemOpenAlex for { <https://semopenalex.org/work/W4311577898> ?p ?o ?g. }
- W4311577898 abstract "Abstract Whole Exome Sequencing (WES) studies provide important insights into the genetic architecture of serious mental illness (SMI). Genes that are central to the shared biology of SMIs may be identified by WES in families with multiple affected individuals with diverse SMI (F-SMI). We performed WES in 220 individuals from 75 F-SMI families and 60 unrelated controls. Within pedigree prioritization employed criteria of rarity, functional consequence, and sharing by ≥ 3 affected members. Across the sample, gene and gene-set-wide case–control association analysis was performed with Sequence Kernel Association Test (SKAT). In 14/16 families with ≥ 3 sequenced affected individuals, we identified a total of 78 rare predicted deleterious variants in 78 unique genes shared by ≥ 3 members with SMI. Twenty (25%) genes were implicated in monogenic CNS syndromes in OMIM (OMIM-CNS), a fraction that is a significant overrepresentation (Fisher’s Exact test OR = 2.47, p = 0.001). In gene-set SKAT, statistically significant association was noted for OMIM-CNS gene-set (SKAT-p = 0.005) but not the synaptic gene-set (SKAT-p = 0.17). In this WES study in F-SMI, we identify private, rare, protein altering variants in genes previously implicated in Mendelian neuropsychiatric syndromes; suggesting pleiotropic influences in neurodevelopment between complex and Mendelian syndromes." @default.
- W4311577898 created "2022-12-27" @default.
- W4311577898 creator A5026501849 @default.
- W4311577898 creator A5026751784 @default.
- W4311577898 creator A5030659844 @default.
- W4311577898 creator A5032072158 @default.
- W4311577898 creator A5042407848 @default.
- W4311577898 creator A5047169565 @default.
- W4311577898 creator A5051628239 @default.
- W4311577898 creator A5060649671 @default.
- W4311577898 creator A5061802355 @default.
- W4311577898 creator A5073872303 @default.
- W4311577898 creator A5080602595 @default.
- W4311577898 date "2022-12-07" @default.
- W4311577898 modified "2023-10-14" @default.
- W4311577898 title "Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes" @default.
- W4311577898 cites W1490183063 @default.
- W4311577898 cites W1970413157 @default.
- W4311577898 cites W1980740976 @default.
- W4311577898 cites W1983301798 @default.
- W4311577898 cites W1983719168 @default.
- W4311577898 cites W1984068087 @default.
- W4311577898 cites W1986145335 @default.
- W4311577898 cites W2013726744 @default.
- W4311577898 cites W2020427316 @default.
- W4311577898 cites W2023962370 @default.
- W4311577898 cites W2038106613 @default.
- W4311577898 cites W2051978340 @default.
- W4311577898 cites W2111326065 @default.
- W4311577898 cites W2129952088 @default.
- W4311577898 cites W2145187337 @default.
- W4311577898 cites W2148277974 @default.
- W4311577898 cites W2326403029 @default.
- W4311577898 cites W2337092408 @default.
- W4311577898 cites W2340656051 @default.
- W4311577898 cites W2343238279 @default.
- W4311577898 cites W2529263373 @default.
- W4311577898 cites W2742614542 @default.
- W4311577898 cites W2763836527 @default.
- W4311577898 cites W2791165244 @default.
- W4311577898 cites W2792523657 @default.
- W4311577898 cites W2804631633 @default.
- W4311577898 cites W2811343296 @default.
- W4311577898 cites W2892091513 @default.
- W4311577898 cites W2946139252 @default.
- W4311577898 cites W2948949781 @default.
- W4311577898 cites W2949548602 @default.
- W4311577898 cites W2951507392 @default.
- W4311577898 cites W2953080562 @default.
- W4311577898 cites W2980897917 @default.
- W4311577898 cites W2983765585 @default.
- W4311577898 cites W2998914148 @default.
- W4311577898 cites W2998941495 @default.
- W4311577898 cites W2999199687 @default.
- W4311577898 cites W3004013987 @default.
- W4311577898 cites W3005070761 @default.
- W4311577898 cites W3007803344 @default.
- W4311577898 cites W3029661147 @default.
- W4311577898 cites W3105951520 @default.
- W4311577898 cites W3107351341 @default.
- W4311577898 cites W3113146840 @default.
- W4311577898 cites W3121931858 @default.
- W4311577898 cites W3124935222 @default.
- W4311577898 cites W3127608420 @default.
- W4311577898 cites W3135640709 @default.
- W4311577898 cites W3137059146 @default.
- W4311577898 cites W3144951232 @default.
- W4311577898 cites W3166319232 @default.
- W4311577898 cites W3169908914 @default.
- W4311577898 cites W3171418018 @default.
- W4311577898 cites W3174751313 @default.
- W4311577898 cites W3184065687 @default.
- W4311577898 cites W3185570453 @default.
- W4311577898 cites W3196355006 @default.
- W4311577898 cites W3201415496 @default.
- W4311577898 cites W4200501170 @default.
- W4311577898 cites W4205284861 @default.
- W4311577898 cites W4223433728 @default.
- W4311577898 cites W4229010457 @default.
- W4311577898 doi "https://doi.org/10.1038/s41598-022-25664-7" @default.
- W4311577898 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36476812" @default.
- W4311577898 hasPublicationYear "2022" @default.
- W4311577898 type Work @default.
- W4311577898 citedByCount "0" @default.
- W4311577898 crossrefType "journal-article" @default.
- W4311577898 hasAuthorship W4311577898A5026501849 @default.
- W4311577898 hasAuthorship W4311577898A5026751784 @default.
- W4311577898 hasAuthorship W4311577898A5030659844 @default.
- W4311577898 hasAuthorship W4311577898A5032072158 @default.
- W4311577898 hasAuthorship W4311577898A5042407848 @default.
- W4311577898 hasAuthorship W4311577898A5047169565 @default.
- W4311577898 hasAuthorship W4311577898A5051628239 @default.
- W4311577898 hasAuthorship W4311577898A5060649671 @default.
- W4311577898 hasAuthorship W4311577898A5061802355 @default.
- W4311577898 hasAuthorship W4311577898A5073872303 @default.
- W4311577898 hasAuthorship W4311577898A5080602595 @default.
- W4311577898 hasBestOaLocation W43115778981 @default.
- W4311577898 hasConcept C104317684 @default.
- W4311577898 hasConcept C10590036 @default.
- W4311577898 hasConcept C127716648 @default.