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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Authors :
Tianyun Wang
Kendra Hoekzema
Davide Vecchio
Huidan Wu
Arvis Sulovari
Bradley P. Coe
Madelyn A. Gillentine
Amy B. Wilfert
Luis A. Perez-Jurado
Malin Kvarnung
Yoeri Sleyp
Rachel K. Earl
Jill A. Rosenfeld
Madeleine R. Geisheker
Lin Han
Bing Du
Chris Barnett
Elizabeth Thompson
Marie Shaw
Renee Carroll
Kathryn Friend
Rachael Catford
Elizabeth E. Palmer
Xiaobing Zou
Jianjun Ou
Honghui Li
Hui Guo
Jennifer Gerdts
Emanuela Avola
Giuseppe Calabrese
Maurizio Elia
Donatella Greco
Anna Lindstrand
Ann Nordgren
Britt-Marie Anderlid
Geert Vandeweyer
Anke Van Dijck
Nathalie Van der Aa
Brooke McKenna
Miroslava Hancarova
Sarka Bendova
Marketa Havlovicova
Giovanni Malerba
Bernardo Dalla Bernardina
Pierandrea Muglia
Arie van Haeringen
Mariette J. V. Hoffer
Barbara Franke
Gerarda Cappuccio
Martin Delatycki
Paul J. Lockhart
Melanie A. Manning
Pengfei Liu
Ingrid E. Scheffer
Nicola Brunetti-Pierri
Nanda Rommelse
David G. Amaral
Gijs W. E. Santen
Elisabetta Trabetti
Zdeněk Sedláček
Jacob J. Michaelson
Karen Pierce
Eric Courchesne
R. Frank Kooy
The SPARK Consortium
Magnus Nordenskjöld
Corrado Romano
Hilde Peeters
Raphael A. Bernier
Jozef Gecz
Kun Xia
Evan E. Eichler
Source :
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Publication Year :
2020
Publisher :
Nature Portfolio, 2020.

Abstract

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
11
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.984b4b7e89d4200874d3fcd3c269adc
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-020-18723-y