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J Med Genet. 2013 Feb 8. [Epub ahead of print]
Multiple myeloma is affected by multiple and heterogeneous somatic mutations in adhesion- and receptor tyrosine kinase signaling molecules.
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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
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Nat Genet. 2013 Feb 10. [Epub ahead of print]
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Rapid deep sequencing of patient-derived HIV with ion semiconductor technology.
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Next-generation sequencing of small RNAs from HIV-infected cells identifies phased microRNA expression patterns and candidate novel microRNAs differentially expressed upon infection.
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Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.
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Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia.
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