Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data

Journal of Computational Biology

Volumn 21, Issue 6, 2014, Pages 405-419

  Cleary, John G ^a   Braithwaite, Ross ^a   Gaastra, Kurt ^a   Hilbush, Brian S ^b   Inglis, Stuart ^c   Irvine, Sean A ^a   Jackson, Alan ^a   Littin, Richard ^c   Nohzadeh Malakshah, Sahar ^b   Rathod, Mehul ^a   Ware, David ^a   Trigg, Len ^a   De La Vega, Francisco M ^b  

^a Real Time Genomics Ltd   (New Zealand)

^b Real Time Genomics Inc   (United States)

^c NetValue Ltd   (New Zealand)

Author keywords

Bayesian networks; indel; multiple nucleotide polymorphism (MNP); next generation sequencing; pedigree; single nucleotide variant (SNV); trios; variant calling

Indexed keywords

DNA MUTATIONAL ANALYSIS; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; MUTATION; PEDIGREE; PROCEDURES;

DNA MUTATIONAL ANALYSIS; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; PEDIGREE;

EID: 84901984971     PISSN: 10665277     EISSN: None     Source Type: Journal    
DOI: 10.1089/cmb.2014.0029     Document Type: Article

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