Exome

Results: 288



#Item
1

Downloaded from genome.cshlp.org on January 20, Published by Cold Spring Harbor Laboratory Press Research Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

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Source URL: krishna.gs.washington.edu

Language: English - Date: 2016-01-20 08:56:16
    2

    Generating NCI Cancer Gene Panel Data Output from Whole Exome Sequence Laboratory: Molecular Characterization Laboratory Effective Date: Page 1 of 4 SOP Outlines NCI Cancer Gene Panel Version: 2.0.0

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    Source URL: pdmr.cancer.gov

    Language: English - Date: 2018-02-22 14:41:32
      3

      Exome sequencing questionnaire A joint ACGS/UKGTN meeting will be held on the 29th July to discuss how clinical exome and whole exome sequencing, including the use of bespoke virtual subpanel testing, is being applied wi

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      Source URL: www.acgs.uk.com

      - Date: 2016-07-06 08:46:43
        4

        Exome sequencing questionnaire A joint ACGS/UKGTN meeting will be held on the 29th July to discuss how clinical exome and whole exome sequencing, including the use of bespoke virtual subpanel testing, is being applied wi

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        Source URL: www.acgs.uk.com

        - Date: 2016-07-06 08:44:24
          5

          RESEARCH HIGHLIGHTS Nature Reviews Genetics | AOP, published online 15 May 2012; doi:nrg3248 HUMAN GENETICS Fruits of exome sequencing for autism

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          Source URL: elbo.gs.washington.edu

          - Date: 2012-05-18 16:42:46
            6

              Workshop Title: ​ Whole Exome Sequencing Data Analysis Workshop venue: Department of Biochemistry and Biotechnology, College of Science, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana

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            Source URL: trendinafrica.org

            - Date: 2016-06-30 15:35:40
              7

              Phase 4: Variant prioritisation Even with sound experimental design and variant filtering protocols, whole exome sequencing studies often still produce many more candidates than can be verified experimentally. While pos

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              Source URL: h3abionet.org

              - Date: 2016-03-08 11:43:51
                8Biology / Biological databases / Bioinformatics / Molecular biology / Ontology / Genetics / Candidate gene / KEGG / Gene set enrichment / Gene ontology / Dystrophin / Gene expression

                Phase 4: Variant prioritisation Even with sound experimental design and variant filtering protocols, whole exome sequencing studies often still produce many more candidates than can be verified experimentally. While pos

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                Source URL: www.h3abionet.org

                Language: English - Date: 2016-03-08 11:43:51
                9Biology / Molecular biology / Genetics / Rare functional variant / Single-nucleotide polymorphism / PubMed / Exome sequencing / Dominance / Functional genomics / Mutation / SNP annotation

                Phase 3. Functional Variant Discovery Introduction There is no single ‘recipe’ for identifying functional variants. Every filtering strategy inevitably starts with multiple often-logical assumptions about the

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                Source URL: h3abionet.org

                Language: English - Date: 2016-03-08 11:43:56
                10Biology / Molecular biology / Genetics / Statistics / Copy-number variation / Phred quality score / Statistical dispersion / Probability distribution / Median / Coverage probability / Exome sequencing

                New CNV Algorithm in NextGENe v2.3.4 June 2013 John McGuigan, Jacie Wu, Ni Shouyong, CS Jonathan Liu Introduction

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                Source URL: homolog.us

                Language: English
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