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  • 1-10 ل  300 نتائج ل ""Exome""

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Publication : nucleic acids research
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Academic Journal

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

  • Authors : Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Dardas Z

Subjects: DNA Copy Number Variations* ; Exome Sequencing* ; Software*

  • Source: Nucleic acids research [Nucleic Acids Res] 2024 Feb 28; Vol. 52 (4), pp. e18.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.

  • Authors : Hijikata A; Laboratory of Computational Genomics, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan.; Suyama M

Subjects: Exome*/Exome*/Exome*/genetics ; High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/methods ; High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/standards

  • Source: Nucleic acids research [Nucleic Acids Res] 2024 Jan 11; Vol. 52 (1), pp. 114-124.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.

  • Authors : Tan R; Department of Systems Biology, Columbia University, New York, NY 10032, USA.; Shen Y

Subjects: Exome*/Exome*/Exome*/genetics ; DNA Copy Number Variations*; Humans

  • Source: Nucleic acids research [Nucleic Acids Res] 2022 Nov 28; Vol. 50 (21), pp. e123.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Allele-specific copy-number discovery from whole-genome and whole-exome sequencing

Subjects: Genetics; Biotechnology; Human Genome

  • Source: Nucleic Acids Research. 43(14)

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Academic Journal

Whole-exome sequencing reveals the impact of UVA light mutagenesis in xeroderma pigmentosum variant human cells.

Subjects: *XERODERMA pigmentosum; *MUTAGENESIS; *DNA damage

  • Source: Nucleic Acids Research. 2/28/2020, Vol. 48 Issue 4, p1941-1953. 13p.

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Academic Journal

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

  • Authors : Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Institute of Computer Science, Warsaw University of Technology, Warsaw, 00-665 Warsaw, Poland.

Subjects: DNA Copy Number Variations* ; Exome* ; Hemizygote*

  • Source: Nucleic acids research [Nucleic Acids Res] 2017 Feb 28; Vol. 45 (4), pp. 1633-1648.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.

  • Authors : D'Aurizio R; Laboratory of Integrative Systems Medicine (LISM), Institute of Informatics and Telematics and Institute of Clinical Physiology, National Research Council, Pisa, Italy .; Pippucci T

Subjects: DNA Copy Number Variations* ; Exome* ; High-Throughput Nucleotide Sequencing*

  • Source: Nucleic acids research [Nucleic Acids Res] 2016 Nov 16; Vol. 44 (20), pp. e154. Date of Electronic Publication: 2016 Aug 09.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning

Subjects: Machine Learning; DNA Copy Number Variations; Exome Sequencing

  • Source: Nucleic acids research. 50(21)

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Academic Journal

DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data.

  • Authors : Zhang Y; Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Disease, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei 230027, China.; Yu Z

Subjects: DNA Copy Number Variations* ; Exome* ; High-Throughput Nucleotide Sequencing*

  • Source: Nucleic acids research [Nucleic Acids Res] 2015 Jul 01; Vol. 43 (W1), pp. W289-94. Date of Electronic Publication: 2015 May 26.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

New insights into the performance of human whole-exome capture platforms.

  • Authors : Meienberg J; Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich CH-8952, Switzerland.; Zerjavic K

Subjects: Exome*; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*methods ; Sequence Analysis, DNA/Sequence Analysis, DNA/Sequence Analysis, DNA/*methods

  • Source: Nucleic acids research [Nucleic Acids Res] 2015 Jun 23; Vol. 43 (11), pp. e76. Date of Electronic Publication: 2015 Mar 27.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 ل  300 نتائج ل ""Exome""