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Clinical Sequencing Papers of Note: Jun 21, 2011


KRAS mutation detection in paired frozen and formalin-fixed paraffin-embedded (FFPE) colorectal cancer tissues.
Solassol J, Ramos J, Crapez E, et al.
Int J Mol Sci. 2011;12(5):3191-204.

Discovery of common SNPs in the miR-205/200 family-regulated epithelial to mesenchymal transition pathway and their association with risk for non-small cell lung cancer.
Leng S, Bernauer AM, Zhai R, et al.
Int J Mol Epidemiol Genet. 2011;2(2):145-55.

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, et al.
Nat Genet. 2011 Jun 19. [Epub ahead of print]

CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancer.
Wong WC, Kim D, Carter H, et al.
Bioinformatics. 2011 Jun 17. [Epub ahead of print]

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.
Yariz KO, Walsh T, Uzak A, et al.
Fertil Steril. 2011 Jun 16. [Epub ahead of print]

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C, Mahaut C, Wang LW, et al.
Am J Hum Genet. 2011 Jun 15. [Epub ahead of print]

A novel 5-bp deletion in clarin 1 in a family with Usher syndrome.
Akoury E, El Zir E, Mansour A, et al.
Ophthalmic Genet. 2011 Jun 15. [Epub ahead of print]

The interlaboratory robustness of next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories.
Kohlmann A, Klein HU, Weissmann S, et al.
Leukemia. 2011 Jun 17. [Epub ahead of print]

Next generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.
Goh V, Helbling D, Biank V, et al.
J Pediatr Gastroenterol Nutr. 2011 Jun 14. [Epub ahead of print]

Key pathways are frequently mutated in high risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.
Zhang J, Mullighan CG, Harvey RC, et al.
Blood. 2011 Jun 16. [Epub ahead of print]

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
Cullinane AR, Vilboux T, O'Brien K, et al.
J Invest Dermatol. 2011 Jun 16. [Epub ahead of print]

Whole-genome sequencing for optimized patient management.
Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, et al.
Sci Transl Med. 2011 Jun 15;3(87):87re3.

No evidence of viral genomes in whole-transcriptome sequencing of three melanoma metastases.
Feldhahn M, Menzel M, Weide B, et al.
Exp Dermatol. 2011 Jun 14. [Epub ahead of print]

Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia.
Thol F, Damm F, Lüdeking A, et al.
J Clin Oncol. 2011 Jun 13. [Epub ahead of print]

Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation.
Fabbri G, Rasi S, Rossi D, et al.
J Exp Med. 2011 Jun 13. [Epub ahead of print]

Whole genome sequencing and characterization of a virulent Newcastle disease virus isolated from an outbreak in Sweden.
Munir M, Linde AM, Zohari S, et al.
Virus Genes. 2011 Jun 12. [Epub ahead of print]

CREST maps somatic structural variation in cancer genomes with base-pair resolution.
Wang J, Mullighan CG, Easton J, et al.
Nat Methods. 2011 Jun 12. [Epub ahead of print]

Pathogen detection using short-RNA deep sequencing subtraction and assembly.
Isakov O, Modai S, Shomron N.
Bioinformatics. 2011 Jun 11. [Epub ahead of print]

BRAF mutations in hairy-cell leukemia.
Tiacci E, Trifonov V, Schiavoni G, et al.
N Engl J Med. 2011 Jun 11. [Epub ahead of print]

The Scan

Comfort of Home

The Guardian reports that AstraZeneca is to run more clinical trials from people's homes with the aim of increasing participant diversity.

Keep Under Control

Genetic technologies are among the tools suggested to manage invasive species and feral animals in Australia, Newsweek says.

Just Make It

The New York Times writes that there is increased interest in applying gene synthesis to even more applications.

Nucleic Acids Research Papers on OncoDB, mBodyMap, Genomicus

In Nucleic Acids Research this week: database to analyze large cancer datasets, human body microbe database, and more.