Human <Emphasis Type="Italic">PTCHD3</Emphasis> nulls: rare copy number and sequence variants suggest a non-essential gene期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene

Authors:	Mohammad M Ghahramani Seno Benjamin YM Kwan Ka Ki M Lee-Ng Rainald Moessner Anath C Lionel Christian R Marshall Stephen W Scherer

Affiliation:	(1) The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G, 1L7, Canada;(2) Department of Pathobiology, School of Veterinary Medicine, Shiraz University, Shiraz, Iran;(3) McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S, 1A8, Canada

Abstract:	Background Copy number variations (CNVs) can contribute to variable degrees of fitness and/or disease predisposition. Recent studies show that at least 1% of any given genome is copy number variable when compared to the human reference sequence assembly. Homozygous deletions (or CNV nulls) that are found in the normal population are of particular interest because they may serve to define non-essential genes in human biology.

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