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Academic Journal

A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data.

  • Authors : Ainscough BJ; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO, USA.

Subjects: Deep Learning* ; High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/instrumentation; DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*methods

  • Source: Nature genetics [Nat Genet] 2018 Dec; Vol. 50 (12), pp. 1735-1743. Date of Electronic Publication: 2018 Nov 05.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue.

Subjects: DNA Mutational Analysis*; Clonal Evolution/Clonal Evolution/Clonal Evolution/*genetics ; Neoplasms, Multiple Primary/Neoplasms, Multiple Primary/Neoplasms, Multiple Primary/*genetics

  • Source: Nature genetics [Nat Genet] 2015 Apr; Vol. 47 (4), pp. 367-372. Date of Electronic Publication: 2015 Mar 02.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.

  • Authors : Conrad DF; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.; Bird C

Subjects: DNA Mutational Analysis*; Germ-Line Mutation/Germ-Line Mutation/Germ-Line Mutation/*genetics; Chromosome Mapping

  • Source: Nature genetics [Nat Genet] 2010 May; Vol. 42 (5), pp. 385-91. Date of Electronic Publication: 2010 Apr 04.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Periodical

The resequencing imperative.

Subjects: DNA Mutational Analysis*/DNA Mutational Analysis*/DNA Mutational Analysis*/trends ; Sequence Analysis, DNA*/Sequence Analysis, DNA*/Sequence Analysis, DNA*/trends; Ethnicity/Ethnicity/Ethnicity/genetics

  • Source: Nature genetics [Nat Genet] 2007 Apr; Vol. 39 (4), pp. 439-40.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036

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Academic Journal

Mutations in SOX2 cause anophthalmia.

  • Authors : Fantes J; MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.; Ragge NK

Subjects: Chromosomes, Human, Pair 3* ; DNA Mutational Analysis*; Anophthalmos/Anophthalmos/Anophthalmos/*genetics

  • Source: Nature genetics [Nat Genet] 2003 Apr; Vol. 33 (4), pp. 461-3. Date of Electronic Publication: 2003 Mar 03.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Transcription-associated mutational asymmetry in mammalian evolution.

Subjects: DNA Mutational Analysis* ; Transcription, Genetic*; Animals

  • Source: Nature genetics [Nat Genet] 2003 Apr; Vol. 33 (4), pp. 514-7. Date of Electronic Publication: 2003 Mar 03.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Periodical

Building-blocks of embryogenesis.

Subjects: DNA Mutational Analysis*; Cloning, Molecular/Cloning, Molecular/Cloning, Molecular/*methods ; Zebrafish/Zebrafish/Zebrafish/*embryology

  • Source: Nature genetics [Nat Genet] 2002 Jun; Vol. 31 (2), pp. 125-6.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036

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Academic Journal

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

  • Authors : Nagle DL; Millennium Pharmaceuticals, Inc., Cambridge, Massachusetts 02139, USA.; Karim MA

Subjects: DNA Mutational Analysis*; Chediak-Higashi Syndrome/Chediak-Higashi Syndrome/Chediak-Higashi Syndrome/*genetics ; Proteins/Proteins/Proteins/*genetics

  • Source: Nature genetics [Nat Genet] 1996 Nov; Vol. 14 (3), pp. 307-11.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036

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Editorial & Opinion

Screening for truncated NF1 proteins.

Subjects: DNA Mutational Analysis* ; Genes, Neurofibromatosis 1*; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Nature genetics [Nat Genet] 1994 Nov; Vol. 8 (3), pp. 218-9.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036

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Academic Journal

Chromatin structure-based prediction of recurrent noncoding mutations in cancer.

  • Authors : Kim K; Department of Bio and Brain Engineering, KAIST, Daejeon, Republic of Korea.; Jang K

Subjects: Chromatin*/Chromatin*/Chromatin*/chemistry ; Mutation*; DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*methods

  • Source: Nature genetics [Nat Genet] 2016 Nov; Vol. 48 (11), pp. 1321-1326. Date of Electronic Publication: 2016 Oct 10.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  418 results for ""DNA mutational analysis""