Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

BMC Medical Genomics

Volumn 10, Issue 1, 2017, Pages

  Fang, Han ^a,b   Wu, Yiyang ^a,b   Yang, Hui ^f,g   Yoon, Margaret ^a   Jiménez Barrón, Laura T ^a,c   Mittelman, David ^d   Robison, Reid ^d,e   Wang, Kai ^f,h   Lyon, Gholson J ^a,b,e,f  

^a Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

^b STONY BROOK UNIVERSITY   (United States)

^c INSTITUTO DE CIENCIAS FÍSICAS   (Mexico)

^d Tute Genomics   (United States)

^e Utah Foundation for Biomedical Research   (United States)

^f UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^g UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^h NewYork Presbyterian Hospital   (United States)

Author keywords

Dysautonomia; Hemochromatosis; Human phenotype ontology; Phenolyzer; Prader Willi Syndrome; Precision medicine; Variant calling; Whole genome sequencing

Indexed keywords

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DYSAUTONOMIA; FAMILY HISTORY; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOMICS; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HUMAN; MALE; MOLECULAR DIAGNOSIS; PEDIGREE ANALYSIS; PRADER WILLI SYNDROME; WHOLE GENOME SEQUENCING; COPY NUMBER VARIATION; FALSE POSITIVE RESULT; GENETICS; HUMAN GENOME; MOLECULAR GENETICS; PEDIGREE; PERSONALIZED MEDICINE; PHENOTYPE; PROCEDURES; SEQUENCE ANALYSIS;

DNA COPY NUMBER VARIATIONS; FALSE POSITIVE REACTIONS; FEMALE; GENOME, HUMAN; GENOMICS; HUMANS; MALE; MOLECULAR SEQUENCE ANNOTATION; PEDIGREE; PHENOTYPE; PRECISION MEDICINE; PRIMARY DYSAUTONOMIAS; SEQUENCE ANALYSIS;

EID: 85013758980     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/s12920-017-0246-5     Document Type: Article

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