Comprehensive variation discovery in single human genomes

Nature Genetics

Volumn 46, Issue 12, 2014, Pages 1350-1355

  Weisenfeld, Neil I ^a   Yin, Shuangye ^a   Sharpe, Ted ^a   Lau, Bayo ^a   Hegarty, Ryan ^a   Holmes, Laurie ^a   Sogoloff, Brian ^a   Tabbaa, Diana ^a   Williams, Louise ^a   Russ, Carsten ^a   Nusbaum, Chad ^a   Lander, Eric S ^a   Maccallum, Iain ^a   Jaffe, David B ^a  

^a BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DNA BASE COMPOSITION; FOSMID; GENETIC VARIABILITY; GENOME SIZE; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN GENOME; INDEL MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; TRINUCLEOTIDE REPEAT; X CHROMOSOME; ALGORITHM; CHROMOSOME MAP; COMPUTER PROGRAM; DNA MICROARRAY; GENE FREQUENCY; GENOME; HIGH THROUGHPUT SEQUENCING; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM;

ALGORITHMS; BASE SEQUENCE; CHROMOSOME MAPPING; GENE FREQUENCY; GENETIC VARIATION; GENOME; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SOFTWARE;

EID: 84922584295     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3121     Document Type: Article

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