Genetic variant

Results: 39



#Item
1

Exercise A variant has been identified in a patient presenting with a genetic disorder. We’d like to determine if it is causing the phenotype. The variant is in HGVS notation: 21:g.25606478T>C. (a) What are the prote

Add to Reading List

Source URL: ftp.ebi.ac.uk

Language: English - Date: 2018-03-06 08:50:01
    216p11.2 Deletion Fact Sheet What does it mean to have a 16p11.2 Deletion? A 16p11.2 deletion is a type of genetic change called a Copy Number Variant (CNV). A CNV means there is a section of a chromosome missing or extra

    16p11.2 Deletion Fact Sheet What does it mean to have a 16p11.2 Deletion? A 16p11.2 deletion is a type of genetic change called a Copy Number Variant (CNV). A CNV means there is a section of a chromosome missing or extra

    Add to Reading List

    Source URL: simonsvipconnect.org

    Language: English - Date: 2016-08-22 00:29:40
      31q21.1 Duplication Fact Sheet What does it mean to have a 1q21.1 Duplication? A 1q21.1 duplication is a type of genetic change called a Copy Number Variant (CNV). A CNV means there is a section of a chromosome missing or

      1q21.1 Duplication Fact Sheet What does it mean to have a 1q21.1 Duplication? A 1q21.1 duplication is a type of genetic change called a Copy Number Variant (CNV). A CNV means there is a section of a chromosome missing or

      Add to Reading List

      Source URL: simonsvipconnect.org

      Language: English - Date: 2016-08-22 00:29:40
        4Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics - Draft Guidance for Stakeholders and Food and Drug Administration Staff

        Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics - Draft Guidance for Stakeholders and Food and Drug Administration Staff

        Add to Reading List

        Source URL: www.fda.gov

        Language: English
        5Variant Calling with R/Bioconductor Michael Lawrence July 28, 2014 Outline

        Variant Calling with R/Bioconductor Michael Lawrence July 28, 2014 Outline

        Add to Reading List

        Source URL: bioconductor.org

        Language: English - Date: 2014-07-28 17:39:34
        6Variant Visualization:19 PM IRF2BP2 (NM_001077397) Gene Search:

        Variant Visualization:19 PM IRF2BP2 (NM_001077397) Gene Search:

        Add to Reading List

        Source URL: www.cs.ubc.ca

        Language: English - Date: 2013-08-01 22:03:39
        7Rare Variant Burden Tests

        Rare Variant Burden Tests

        Add to Reading List

        Source URL: genome.sph.umich.edu

        Language: English - Date: 2012-11-28 13:58:36
        8Press release: August 12, 2009 X chromosomal genetic variant delays progression to AIDS in HIV-infected women After infection with HIV, the destruction of the immune system and the subsequent development of AIDS symptom

        Press release: August 12, 2009 X chromosomal genetic variant delays progression to AIDS in HIV-infected women After infection with HIV, the destruction of the immune system and the subsequent development of AIDS symptom

        Add to Reading List

        Source URL: genome.imb-jena.de

        Language: English - Date: 2009-08-14 05:54:56
          9Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus

          Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus

          Add to Reading List

          Source URL: genome.imb-jena.de

          Language: English - Date: 2014-01-20 08:45:06