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Nature Genetics (2)

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Advanced filters: Author: Olena Marchenko Clear advanced filters

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

An integrated analysis of de novo and inherited coding variants in 42,607 individuals with autism spectrum disorder identifies 60 risk genes of which five have not previously been associated with neurodevelopmental disorders.

Xueya Zhou
Pamela Feliciano
Wendy K. Chung
ResearchOpen Access18 Aug 2022
Nature Genetics

Volume: 54, P: 1305-1319
Recent ultra-rare inherited variants implicate new autism candidate risk genes

Analysis of whole-genome sequence data from 3,474 families finds an excess of private, likely gene-disrupting variants in individuals with autism. These variants are under purifying selection and suggest candidate genes not previously associated with autism.

Amy B. Wilfert
Tychele N. Turner
Evan E. Eichler
Research26 Jul 2021
Nature Genetics

Volume: 53, P: 1125-1134

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Recent ultra-rare inherited variants implicate new autism candidate risk genes

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