Excess of rare, inherited truncating mutations in autism

Excess of rare, inherited truncating mutations in autism

To assess the relative impact of inherited and de novo variants on autism risk, we generated a comprehensive set of exonic single nucleotide variants (SNVs) and copy number variants (CNVs) from 2,377 autism families. We find that private, inherited truncating SNVs in conserved genes are enriched in...

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Bibliographic Details
Main Authors: Krumm, Niklas, Turner, Tychele N., Baker, Carl, Vives, Laura, Mohajeri, Kiana, Witherspoon, Kali, Raja, Archana, Coe, Bradley P., Stessman, Holly A., He, Zong-Xiao, Leal, Suzanne M., Bernier, Raphael, Eichler, Evan E.
Format: Online
Language:English
Published: 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449286/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449286/

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