Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders
Alba Sanchis-Juan,Karyn Megy,Jonathan Stephens, Camila Armirola Ricaurte,Eleanor Dewhurst,Kayyi Low,Courtney E. French,Detelina Grozeva,Kathleen Stirrups,Marie Erwood,Amy McTague,Christopher J. Penkett,Olga Shamardina,Salih Tuna,Louise C. Daugherty,Nicholas Gleadall,Sofia T. Duarte,Antonio Hedrera-Fernandez,Julie Vogt,Gautam Ambegaonkar,Manali Chitre,Dragana Josifova,Manju A. Kurian,Alasdair Parker,Julia Rankin,Evan Reid,Emma Wakeling,Evangeline Wassmer,F. Lucy Raymond,Keren J. Carss AMERICAN JOURNAL OF HUMAN GENETICS（2023）
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neurodevelopmental disorders,whole-genome sequencing,long-read sequencing,structural variants
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