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Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data

bioRxiv

Jan 22, 2014

John G. ClearyFrancisco M. De La Vega

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Abstract

The analysis of whole-genome or exome sequencing data from trios and pedigrees has being successfully applied to the identification of disease-causing mutations. However, most methods used to identify and genotype genetic variants from next-generation sequencing data ignore the relation...read more

Mentioned in this Paper

Study
Whole Genome Amplification
A 17
Simulation
Gene Mutant
Single Nucleotide Polymorphism Database
Single Nucleotide Polymorphism
Crossing Over, Genetic
Whole Genome Sequencing
Genetic Pedigree
9
9
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  • Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data

    bioRxiv

    Jan 22, 2014

    John G. ClearyFrancisco M. De La Vega

    PMID: 990001958

    DOI: 10.1101/001958

    Abstract

    The analysis of whole-genome or exome sequencing data from trios and pedigrees has being successfully applied to the identification of disease-causing mutations. However, most methods used to identify and genotype genetic variants from next-generation sequencing data ignore the relation...read more

    Mentioned in this Paper

    Study
    Whole Genome Amplification
    A 17
    Simulation
    Gene Mutant
    9
    9

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