Secondary findings and carrier test frequencies in a large multiethnic sample

Genome Medicine

Volumn 7, Issue 1, 2015, Pages

  Gambin, Tomasz ^a,b   Jhangiani, Shalini N ^a   Below, Jennifer E ^c   Campbell, Ian M ^a   Wiszniewski, Wojciech ^a   Muzny, Donna M ^a   Staples, Jeffrey ^c   Morrison, Alanna C ^c   Bainbridge, Matthew N ^a   Penney, Samantha ^a,d   McGuire, Amy L ^a   Gibbs, Richard A ^a   Lupski, James R ^a,d   Boerwinkle, Eric ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b WARSAW UNIVERSITY OF TECHNOLOGY   (Poland)

^c UNIVERSITY OF TEXAS   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; COMPARATIVE STUDY; CONTROLLED STUDY; ETHNIC DIFFERENCE; EXOME; FEMALE; GENE FREQUENCY; GENETIC DISORDER; GENETIC RISK; GENETIC VARIABILITY; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MENDELIAN DISEASE; PRIORITY JOURNAL; PROGENY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE VARIANT; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER;

EID: 84937547912     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0171-1     Document Type: Article

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