DeNovoGear: De novo indel and point mutation discovery and phasing

Nature Methods

Volumn 10, Issue 10, 2013, Pages 985-987

  Ramu, Avinash ^a   Noordam, Michiel J ^a   Schwartz, Rachel S ^b   Wuster, Arthur ^c   Hurles, Matthew E ^c   Cartwright, Reed A ^b,d   Conrad, Donald F ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ARIZONA STATE UNIVERSITY   (United States)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d ARIZONA STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; ARTICLE; BINOMIAL DISTRIBUTION; DE NOVO MUTATION; EXOME; GENETIC ANALYSIS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; INDEL MUTATION; INHERITANCE; MUTATION RATE; POINT MUTATION; PRIORITY JOURNAL; PROBABILITY; SENSITIVITY AND SPECIFICITY; VARIABLE NUMBER OF TANDEM REPEAT;

EXOME; GENE DELETION; GENOME, HUMAN; HUMAN GENOME PROJECT; HUMANS; INDEL MUTATION; LIKELIHOOD FUNCTIONS; MODELS, GENETIC; MUTAGENESIS, INSERTIONAL; POINT MUTATION; SOFTWARE;

EID: 84884902321     PISSN: 15487091     EISSN: 15487105     Source Type: Journal    
DOI: 10.1038/nmeth.2611     Document Type: Article

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