Genome-scale sequencing to identify genes involved in Mendelian disorders

Current Protocols in Human Genetics

Volumn , Issue SUPPL.79, 2013, Pages

  Markello, Thomas C ^a   Adams, David R ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Bioinformatics; Clinical sequencing; Exome; Mendelian inheritance; Next generation sequencing

Indexed keywords

ARTICLE; CHROMOSOME; COMPUTER PROGRAM; DATA ANALYSIS; DATA PROCESSING; DNA SEQUENCE; EXOME; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PROCEDURES; GENOME; GENOME SCALE SEQUENCING; GENOTYPE PHENOTYPE CORRELATION; GENOTYPING TECHNIQUE; HOMOZYGOSITY; HUMAN; INFORMED CONSENT; INHERITANCE; MENDELIAN INHERITANCE; POPULATION GENETICS; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84896334892     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg0613s79     Document Type: Article

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