A universal snp and small-indel variant caller using deep neural networks

Nature Biotechnology

Volumn 36, Issue 10, 2018, Pages 983-

  Poplin, Ryan ^a,b   Chang, Pi Chuan ^b   Alexander, David ^b   Schwartz, Scott ^b   Colthurst, Thomas ^b   Ku, Alexander ^b   Newburger, Dan ^a   Dijamco, Jojo ^a   Nguyen, Nam ^a   Afshar, Pegah T ^a   Gross, Sam S ^a   Dorfman, Lizzie ^a,b   McLean, Cory Y ^a,b   Depristo, Mark A ^a,b  

^a VERILY LIFE SCIENCES   (United States)

^b GOOGLE INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENES; MAMMALS; NEURAL NETWORKS;

CONVOLUTIONAL NEURAL NETWORK; GENETIC VARIANTS; GENETIC VARIATION; GROUND TRUTH DATA; MAMMALIAN SPECIES; NEXT-GENERATION SEQUENCING; STATE OF THE ART; STATISTICAL RELATIONSHIP;

DEEP NEURAL NETWORKS;

DEEP NEURAL NETWORK; DEEPVARIANT; EXOME; EXPERIMENTAL DESIGN; FEMALE; GENETIC VARIABILITY; GENETIC VARIATION; HUMAN; HUMAN GENOME; INDEL MUTATION; LETTER; MACHINE LEARNING; MALE; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; ARTIFICIAL NEURAL NETWORK; DNA MUTATIONAL ANALYSIS; DNA SEQUENCE; GENETICS; GENOMICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MAMMAL; SOFTWARE;

ANIMALS; DNA MUTATIONAL ANALYSIS; GENOME, HUMAN; GENOMICS; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDEL MUTATION; MAMMALS; NEURAL NETWORKS (COMPUTER); POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 85054719134     PISSN: 10870156     EISSN: 15461696     Source Type: Journal    
DOI: 10.1038/nbt.4235     Document Type: Article

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