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Your search for author "Matthew E. Hurles" returned 5 results.

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  • Quantifying the contribution of recessive coding variation to developmental disorders

    Exome sequencing of more than 6000 families identifies a lower rate of recessive inheritance than previously estimated.

  • 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.

  • Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

    Sequencing of structure variations over segments of DNA from two individuals of different ethnic groups showed unexpected levels of diversity.

  • Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

    Variation in gene expression among humans is caused by differences in single nucleotides as well as in the number of copies of genes.