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1. Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

3. Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

4. Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

5. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

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