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Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data

bioRxiv

Oct 29, 2017

Nagarajan ParamasivamMatthias Schlesner

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Abstract

With genome sequencing entering the clinics as a diagnostic tool to study genetic disorders, there is an increasing need for bioinformatics solutions that enable precise causal variant identification in a timely manner. Background: Workflows for the identification of candidate disease-c...read more

Mentioned in this Paper

Genetic Analysis
Gene Polymorphism
Study
Neurodevelopmental Disorders
Gene Mutant
Genome Sequencing
Whole Genome Sequencing
Genetic Polymorphism
Genetic Pedigree
Bio-Informatics
17
9
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  • Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data

    bioRxiv

    Oct 29, 2017

    Nagarajan ParamasivamMatthias Schlesner

    PMID: 990209882

    DOI: 10.1101/209882

    Abstract

    With genome sequencing entering the clinics as a diagnostic tool to study genetic disorders, there is an increasing need for bioinformatics solutions that enable precise causal variant identification in a timely manner. Background: Workflows for the identification of candidate disease-c...read more

    Mentioned in this Paper

    Genetic Analysis
    Gene Polymorphism
    Study
    Neurodevelopmental Disorders
    Gene Mutant
    17
    9

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