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In Print: Last Week's Clinical Sequencing Papers of Note: May 30, 2012


Association between the C3435T single-nucleotide polymorphism of multidrug resistance 1 gene and risk of gastric cancer.
Oliveira J, Felipe AV, Chang PY, Pimenta CA, Silva TD, Massud J, Forones NM.
Mol Med Report. 2012 May 23. [Epub ahead of print]

Molecular genetic diagnostics of Friedreich's ataxia. Ten years' experience based on analysis of blood samples.
Kisfali P, Melegh B.
Orv Hetil. 2012 Jun 1;153(22):852-5.

Exome sequencing and the genetic basis of complex traits.
Kiezun A, Garimella K, Do R, et al.
Nat Genet. 2012 May 29;44(6):623-30.

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.
Ku CS, Polychronakos C, Tan EK, et al.
Mol Psychiatry. 2012 May 29. [Epub ahead of print]

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications.
Papageorgiou EA, Patsalis PC.
Genome Med. 2012 May 28;4(5):46.

Pyrosequencing data analysis software: a useful tool for EGFR, KRAS, and BRAF mutation analysis.
Shen S, Qin D.
Diagn Pathol. 2012 May 28;7(1):56.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR, Parfitt DA, Gardner JC, et al.
Hum Mol Genet. 2012 May 22. [Epub ahead of print]

Sequence comparison of three infectious molecular clones of RD-114 virus.
Shimode S, Yoshikawa R, Hoshino S, et al.
Virus Genes. 2012 May 26. [Epub ahead of print]

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
Blumkin L, Kivity S, Lev D, et al.
J Neurol. 2012 May 26. [Epub ahead of print]

Integrative analysis of genome-wide loss of heterozygosity and mono-allelic expression at nucleotide resolution reveals disrupted pathways in triple negative breast cancer.
Ha G, Roth A, Lai D, et al.
Genome Res. 2012 May 25. [Epub ahead of print]

Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators.
Fujimoto A, Totoki Y, Abe T, et al.
Nat Genet. 2012 May 27. [Epub ahead of print]

Genome-wide survey of recurrent HBV integration in hepatocellular carcinoma.
Sung WK, Zheng H, Li S, et al.
Nat Genet. 2012 May 27. [Epub ahead of print]

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
Meimaridou E, Kowalczyk J, Guasti L, et al.
Nat Genet. 2012 May 27. [Epub ahead of print]

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
Arboleda VA, Lee H, Parnaik R, et al.
Nat Genet. 2012 May 27. [Epub ahead of print]

Optimization of affinity, specificity and function of designed influenza inhibitors using deep sequencing.
Whitehead TA, Chevalier A, Song Y, et al.
Nat Biotechnol. 2012 May 27. [Epub ahead of print]

Evaluation of a Mitochondrial DNA Mutation in maternally inherited and sporadic cases of Dupuytren's disease.
Anderson ER, Burmester JK, Caldwell MD.
Clin Med Res. 2012 May 25. [Epub ahead of print]

Rapid detection and antimicrobial resistance gene profiling of Yersinia pestis using pyrosequencing technology.
Amoako KK, Thomas MC, Kong F, Janzen TW, Hahn KR, Shields MJ, Goji N.
J Microbiol Methods. 2012 May 23. [Epub ahead of print]

Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors.
Edlund K, Larsson O, Ameur A, et al.
Proc Natl Acad Sci U S A. 2012 May 24. [Epub ahead of print]

The Global Cancer Genomics Consortium: Interfacing genomics and cancer medicine.
Eswaran J, Gupta S, Dutt A, et al.
Cancer Res. 2012 May 24. [Epub ahead of print]

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Bamshad MJ, Shendure JA, Valle D, et al.
Am J Med Genet A. 2012 May 24. [Epub ahead of print]

Optimized selection of unrelated subjects for whole-genome sequencing studies of rare high-penetrance alleles.
Edwards TL, Li C.
Genet Epidemiol. 2012 May 23. [Epub ahead of print]

High-throughput antibody sequencing reveals genetic evidence of global regulation of the naïve and memory repertoires that extends across individuals.
Briney BS, Willis JR, McKinney BA, Crowe JE Jr.
Genes Immun. 2012 May 24. [Epub ahead of print]

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.