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Clinical Sequencing Papers of Note: Apr 26, 2011


A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M.
BMC Med Genet. 2011 Apr 22;12(1):56.

Analysis of HIV-1 expression level and sense of transcription by high-throughput sequencing of the infected cell.
Lefebvre G, Desfarges S, Uyttebroeck F, et al.
J Virol. 2011 Apr 20.

SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.
Pantaleo MA, Astolfi A, Indio V, et al.
J Natl Cancer Inst. 2011 Apr 19.

Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.
Welch JS, Westervelt P, Ding L, et al.
JAMA. 2011 Apr 20;305(15):1577-1584.

Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.
Link DC, Schuettpelz LG, Shen D, et al.
JAMA. 2011 Apr 20;305(15):1568-1576.

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