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Detection of rare disease-related genetic variants using the birthday model

bioRxiv

Nov 7, 2018

Yael BersteinWilliam Richard McCombie

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Abstract

Motivation: Exome sequencing is a powerful technique for the identification of disease-causing genes. A number of Mendelian inherited disease genes have been identified through this method. However, it remains a challenge to leverage exome sequencing for the study of complex disorders, ...read more

Mentioned in this Paper

Study
Validation
Gene Mutant
Schizophrenia
Detection
Genome
Motivation
Aggregation
Recurrent Malignant Neoplasm
Recurrence (Disease Attribute)
16
8
Paper Details
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  • Detection of rare disease-related genetic variants using the birthday model

    bioRxiv

    Nov 7, 2018

    Yael BersteinWilliam Richard McCombie

    DOI: 10.1101/464842

    Abstract

    Motivation: Exome sequencing is a powerful technique for the identification of disease-causing genes. A number of Mendelian inherited disease genes have been identified through this method. However, it remains a challenge to leverage exome sequencing for the study of complex disorders, ...read more

    Mentioned in this Paper

    Study
    Validation
    Gene Mutant
    Schizophrenia
    Detection
    16
    8
    Paper Details
    References
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    • Citations

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      We're still populating references for this paper, please check back later.
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