Identification and quantification of oligogenic loss-of-function disorders.

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作者： Arthur,Stefanski ^[1] ; Eduardo,Pérez-Palma ^[2] ; Marko,Mrdjen ^[3] ; Megan,McHugh ^[3] ; Costin,Leu ^[4] ; Dennis,Lal ^[5]

作者单位： Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH. ^[1] Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH; Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile. ^[2] Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH. ^[3] Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA. ^[4] Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. Electronic address: lald@ccf.org. ^[5]

关键词 CNV Epilepsy Loss-of-function Monogenic Oligogenic

主题词 DNA拷贝数变异(DNA Copy Number Variations);基因组(Genome);单倍剂量不足(Haploinsufficiency);人类(Humans);表型(Phenotype)

DOI 10.1016/j.gim.2021.10.026

PMID 34906500

发布时间 2022-03-23

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