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In Print: Last Week's Clinical Sequencing Papers of Note: Dec 18, 2013


ETV6-NTRK3 is a common chromosomal rearrangement in radiation-associated thyroid cancer.
Leeman-Neill RJ, Kelly LM, Liu P, Brenner AV, et al.
Cancer. 2013 Dec 10. [Epub ahead of print]

Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1.
Cao Y, Gao Z, Li L, Jiang X, et al.
Nat Commun. 2013 Dec 10;4:2810.

Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.
Harismendy O, Schwab RB, Alakus H, Yost SE, et al.
Breast Cancer Res. 2013 Dec 10;15(6):R115.

Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.
Nangalia J, Massie CE, Baxter EJ, Nice FL, et al.
N Engl J Med. 2013 Dec 10. [Epub ahead of print]

Somatic mutations of calreticulin in myeloproliferative neoplasms.
Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, et al.
N Engl J Med. 2013 Dec 10. [Epub ahead of print]

An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability.
Falcone M, Yariz KO, Ross DB, Foster J 2nd, et al.
PLoS One. 2013 Dec 6;8(12):e82810.

Whole genome sequencing reveals complex evolution patterns of multidrug-resistant Mycobacterium tuberculosis Beijing strains in patients.
Merker M, Kohl TA, Roetzer A, Truebe L, et al.
PLoS One. 2013 Dec 6;8(12):e82551.

Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients.
Ni X, Zhuo M, Su Z, Duan J, et al.
Proc Natl Acad Sci U S A. 2013 Dec 9. [Epub ahead of print]

Surveillance of the tumor mutanome by T cells during progression from primary to recurrent ovarian cancer.
Wick DA, Webb JR, Nielsen JS, Martin SD, et al.
Clin Cancer Res. 2013 Dec 9. [Epub ahead of print]

DNA methylation analysis of CD4+ T cells in patients with psoriasis.
Park GT, Han J, Park SG, Kim S, Kim TY.
Arch Dermatol Res. 2013 Dec 10. [Epub ahead of print]

Integrative and comparative genomic analysis of lung squamous cell carcinomas in East Asian patients.
Kim Y, Hammerman PS, Kim J, Yoon JA, et al.
J Clin Oncol. 2013 Dec 9. [Epub ahead of print]

Exome sequencing and diffusion tensor imaging in developmental disabilities.
Sundaram S, Huq A, Hsia T, Chugani H.
Pediatr Res. 2013 Dec 6. [Epub ahead of print]

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
Katagiri S, Yoshitake K, Akahori M, Hayashi T, et al.
Mol Vis. 2013 Nov 24;19:2393-2406.

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
Dor T, Cinnamon Y, Raymond L, Shaag A, et al.
J Med Genet. 2013 Dec 6. [Epub ahead of print]

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, et al.
Hum Mol Genet. 2013 Dec 6. [Epub ahead of print]

A missense mutation in ITGB6 causes pitted hypomineralised amelogenesis imperfecta.
Poulter JA, Brookes SJ, Shore RC, Smith CE, et al.
Hum Mol Genet. 2013 Dec 6. [Epub ahead of print]

Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing.
Saeed S, Bonnefond A, Manzoor J, Philippe J, et al.
Obesity (Silver Spring) . 2013 Nov 25. [Epub ahead of print]

An integrative analysis reveals functional targets of GATA6 transcriptional regulation in gastric cancer.
Sulahian R, Casey F, Shen J, Qian ZR, et al.
Oncogene. 2013 Dec 9. [Epub ahead of print]

Novel germline mutation in the transmembrane domain of HER2 in familial lung adenocarcinomas.
Yamamoto H, Higasa K, Sakaguchi M, Shien K, et al.
J Natl Cancer Inst. 2013 Dec 7. [Epub ahead of print]

Novel somatic mutations in large granular lymphocytic leukemia affecting the STAT-pathway and T-cell activation.
Andersson EI, Rajala HL, Eldfors S, Ellonen P, et al.
Blood Cancer J. 2013 Dec 6;3:e168.

Human gut microbiome and risk of colorectal cancer.
Ahn J, Sinha R, Pei Z, Dominianni C, et al.
J Natl Cancer Inst. 2013 Dec 6. [Epub ahead of print]

Titin mutation in familial restrictive cardiomyopathy.
Peled Y, Gramlich M, Yoskovitz G, Feinberg MS, et al.
Int J Cardiol. 2013 Nov 25. [Epub ahead of print]

Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26.
Fanciulli M, Di Bonaventura C, Egeo G, Fattouch J, et al.
Epilepsy Res. 2013 Nov 18. [Epub ahead of print]

Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment.
Berglund EC, Lindqvist CM, Hayat S, Overnäs E, et al.
BMC Genomics. 2013 Dec 5;14(1):856.