Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

Clinical Genetics

Volumn 87, Issue 6, 2015, Pages 570-575

  Cross, J L ^a   Iben, J ^a   Simpson, C L ^b   Thurm, A ^c   Swedo, S ^c   Tierney, E ^d   Bailey Wilson, J E ^b   Biesecker, L G ^b   Porter, F D ^a   Wassif, C A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^d KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Allelic frequency; DHCR7; Next generation sequencing; SLOS; Smith Lemli Opitz

Indexed keywords

ARTICLE; CHROMOSOME; CLINICAL DECISION MAKING; EXOME; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HEALTH CARE POLICY; HUMAN; INCIDENCE; MORBIDITY; NEWBORN SCREENING; PRENATAL CARE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; ALLELE; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; INFORMATION PROCESSING; MUTATION; SMITH-LEMLI-OPITZ SYNDROME;

7-DEHYDROCHOLESTEROL REDUCTASE; OXIDOREDUCTASE;

ALLELES; DATASETS AS TOPIC; GENE FREQUENCY; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INCIDENCE; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84928769690     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12425     Document Type: Article

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