An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: Results from an ethnically diverse clinical sample of 23,453 individuals

Genetics in Medicine

Volumn 15, Issue 3, 2013, Pages 178-186

  Lazarin, Gabriel A ^a   Haque, Imran S ^a   Nazareth, Shivani ^a   Iori, Kevin ^a   Patterson, A Scott ^a   Jacobson, Jessica L ^a,b   Marshall, John R ^a,c   Seltzer, William K ^a   Patrizio, Pasquale ^d   Evans, Eric A ^a   Srinivasan, Balaji S ^a,e,f  

^a Department of Genetics Counsyl ^*  (United States)

^b NEW YORK UNIVERSITY   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Stanford University   (United States)

^f STANFORD UNIVERSITY   (United States)

Author keywords

Carrier frequency; Carrier screening; Genetic testing; Pan ethnic; Recessive disease

Indexed keywords

ACCURACY; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DISEASE CARRIER; ETHNICITY; GENE FREQUENCY; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY;

ADOLESCENT; ADULT; ETHNIC GROUPS; FEMALE; GENE FREQUENCY; GENETIC DISEASES, INBORN; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; YOUNG ADULT;

EID: 84875178813     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.114     Document Type: Article

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