Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

Genetics in Medicine

Volumn 17, Issue 10, 2015, Pages 782-788

  Jurgens, Julie ^a   Ling, Hua ^b   Hetrick, Kurt ^b   Pugh, Elizabeth ^b   Schiettecatte, Francois ^c   Doheny, Kimberly ^b   Hamosh, Ada ^a   Avramopoulos, Dimitri ^a   Valle, David ^a   Sobreira, Nara ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c FS Consulting   (United States)

Author keywords

American College of Medical Genetics and Genomics recommendations; incidental findings; secondary findings; variant classification; whole exome sequencing

Indexed keywords

ALLELE; ARTICLE; EXOME; GENE FREQUENCY; GENE SEQUENCE; GENETIC CODE; GENETIC DATABASE; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HUMAN; INCIDENTAL FINDING; INDEL MUTATION; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PURIFYING SELECTION; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR GENE; FEMALE; GENETIC DISEASES, INBORN; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION; NUCLEIC ACID DATABASE; PROCEDURES;

DATABASES, NUCLEIC ACID; EXOME; FEMALE; GENETIC DISEASES, INBORN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INCIDENTAL FINDINGS; MALE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84939157303     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.196     Document Type: Article

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