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Clinical Sequencing Papers of Note: May 24, 2011


Added value of deep sequencing relative to population sequencing in heavily pre-treated HIV-1-infected subjects.
Codoñer FM, Pou C, Thielen A, García F, et al.
PLoS One. 2011;6(5):e19461. Epub 2011 May 13.

Detection of variants in 15 genes in 87 unrelated Chinese patients with leber congenital amaurosis.
Li L, Xiao X, Li S, Jia X, et al.
PLoS One. 2011;6(5):e19458. Epub 2011 May 13.

The sensitivity of massively parallel sequencing for detecting candidate infectious agents associated with human tissue.
Moore RA, Warren RL, Freeman JD, Gustavsen JA, et al.
PLoS One. 2011;6(5):e19838. Epub 2011 May 13.

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC, Wang J, Balog J, den Dunnen JT, et al.
Am J Hum Genet. 2011 May 18. [Epub ahead of print]

Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.
Tomiyasu A, Nakamura M, Ichiba M, Ueno S, et al.
Am J Med Genet B Neuropsychiatr Genet. 2011 May 19. doi: 10.1002/ajmg.b.31206. [Epub ahead of print]

Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers.
Guerra F, Kurelac I, Magini P, Cormio A, et al.
Gynecol Oncol. 2011 May 17. [Epub ahead of print]

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MicroRNA sequence and expression analysis in breast tumors by deep sequencing.
Farazi TA, Horlings HM, Ten Hoeve J, Mihailovic A, et al.
Cancer Res. 2011 May 17. [Epub ahead of print]

Analysis for complete genomic sequence of HLA-B and HLA-C alleles in the Chinese Han population.
Zhu F, He Y, Zhang W, He J, et al.
Int J Immunogenet. 2011 May 17. doi: 10.1111/j.1744-313X.2011.01016.x. [Epub ahead of print]

X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.
Yonath H, Marek-Yagel D, Resnik-Wolf H, Abu-Horvitz A, et al.
J Appl Genet. 2011 May 17. [Epub ahead of print]

Germline mutations in epidermal growth factor receptor (EGFR) are rare but may contribute to oncogenesis: a novel germ-line mutation in EGFR detected in a patient with lung adenocarcinoma.
Centeno I, Blay P, Santamaria I, Astudillo A, et al.
BMC Cancer. 2011 May 16;11(1):172.

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H, Jang SH, Duarte JM, Wierling C, et al.
Mol Cancer. 2011 May 16;10(1):54.

The Scan

Study Finds Few FDA Post-Market Regulatory Actions Backed by Research, Public Assessments

A Yale University-led team examines in The BMJ safety signals from the US FDA Adverse Event Reporting System and whether they led to regulatory action.

Duke University Team Develops Programmable RNA Tool for Cell Editing

Researchers have developed an RNA-based editing tool that can target specific cells, as they describe in Nature.

Novel Gene Editing Approach for Treating Cystic Fibrosis

Researchers in Science Advances report on their development of a non-nuclease-based gene editing approach they hope to apply to treat cystic fibrosis.

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.