A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

American Journal of Human Genetics

Volumn 102, Issue 1, 2018, Pages 142-155

  Trost, Brett ^a   Walker, Susan ^a   Wang, Zhuozhi ^a   Thiruvahindrapuram, Bhooma ^a   MacDonald, Jeffrey R ^a   Sung, Wilson W L ^a   Pereira, Sergio L ^a   Whitney, Joe ^a   Chan, Ada J S ^a,b   Pellecchia, Giovanna ^a   Reuter, Miriam S ^a   Lok, Si ^a   Yuen, Ryan K C ^a   Marshall, Christian R ^a,c   Merico, Daniele ^a,d   Scherer, Stephen W ^a,b,e  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d Deep Genomics Inc   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

CNV; copy number variation; read depth; structural variation; SV; variation detection; WGS; whole genome sequencing

Indexed keywords

ARTICLE; AUTISM; CHILD; CHROMOSOMAL MAPPING; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INSERTION; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST ACCURACY STUDY; DNA LIBRARY; DNA SEQUENCE; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FEMALE; GENE IDENTIFICATION; GENE INSERTION; GENETIC ALGORITHM; GENETIC VARIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUALITY CONTROL; SOFTWARE; WHOLE GENOME SEQUENCING; ALGORITHM; GENETICS; HAPLOTYPE; REPRODUCIBILITY; WORKFLOW;

ALGORITHMS; CHILD; DNA COPY NUMBER VARIATIONS; FEMALE; HAPLOTYPES; HUMANS; MALE; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA; WHOLE GENOME SEQUENCING; WORKFLOW;

EID: 85039736236     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.12.007     Document Type: Article

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