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Your search for author "Daniel G. MacArthur" returned 9 results.

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  • Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

    Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.

  • Health and population effects of rare gene knockouts in adult humans with related parents

    The total loss of protein-coding genes, even those with the potential to confer genetic diseases, can be tolerated.

  • Quantifying prion disease penetrance using large population control cohorts

    Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.

  • Effect of predicted protein-truncating genetic variants on the human transcriptome

    Protein-truncated variants impact gene expression levels and splicing across human tissues. [Also see Perspective by Gibson]

  • Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

    Regions under strong selection in the human genome identify noncoding regulatory elements with possible roles in disease.

  • A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

    Validation of predicted nonfunctional alleles in the human genome affects the medical interpretation of genomic analyses.