Abstract
Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Alleles
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DNA Copy Number Variations
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Evolution, Molecular
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Exome*
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Genetic Association Studies
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Genetic Diseases, Inborn / diagnosis*
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Genetic Diseases, Inborn / drug therapy
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Genetic Diseases, Inborn / genetics
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Genetic Heterogeneity
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Genetic Linkage
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Genetic Testing / methods*
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Genome, Human
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Humans
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Mutation
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Phenotype
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Sequence Analysis, DNA / methods