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In Print: Last Week's Clinical Sequencing Papers of Note: Aug 22, 2012


Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia.
Roberts KG, Morin RD, Zhang J, Hirst M, Zhao Y, Su X, Chen SC, et al.
Cancer Cell. 2012 Aug 14;22(2):153-66.

ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression.
Abdel-Wahab O, Adli M, Lafave LM, Gao J, Hricik T, Shih AH, Pandey S, et al.
Cancer Cell. 2012 Aug 14;22(2):180-93.

RNA sequencing revealed novel actors of the acquisition of drug resistance in Candida albicans.
Dhamgaye S, Bernard M, Lelandais G, Sismeiro O, Lemoine S, et al.
BMC Genomics. 2012 Aug 16;13(1):396.

Comparative genomic analysis of primary versus metastatic colorectal carcinomas.
Vakiani E, Janakiraman M, Shen R, Sinha R, Zeng Z, Shia J, Cercek A, et al.
J Clin Oncol. 2012 Aug 20;30(24):2956-62.

Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β Thalassemia.
Lam KW, Jiang P, Liao GJ, Chan KC, Leung TY, Chiu RW, Lo YM.
Clin Chem. 2012 Aug 15. [Epub ahead of print]

Recurrent R-spondin fusions in colon cancer.
Seshagiri S, Stawiski EW, Durinck S, Modrusan Z, Storm EE, et al.
Nature. 2012 Aug 15. [Epub ahead of print]

Next-Generation Sequencing Identifies and Immunohistochemistry Confirms a Novel Crizotinib-Sensitive ALK Rearrangement in a Patient with Metastatic Non-Small-Cell Lung Cancer.
Peled N, Palmer G, Hirsch FR, Wynes MW, Ilouze M, et al.
J Thorac Oncol. 2012 Sep;7(9):e14-6.

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, et al.
BMC Med Genet. 2012 Aug 15;13(1):72.

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.
Facio FM, Eidem H, Fisher T, Brooks S, Linn A, Kaphingst KA, Biesecker LG, Biesecker BB.
Eur J Hum Genet. 2012 Aug 15. [Epub ahead of print]

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
Emre Onat O, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T.
Eur J Hum Genet. 2012 Aug 15. [Epub ahead of print]

Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.
Kiel MJ, Velusamy T, Betz BL, Zhao L, Weigelin HG, Chiang MY, et al.
J Exp Med. 2012 Aug 13. [Epub ahead of print]

The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development.
Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, et al.
J Exp Med. 2012 Aug 13. [Epub ahead of print]

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, et al.
J Med Genet. 2012 Aug;49(8):539-43.

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma.
Wadt K, Choi J, Chung JY, Kiilgaard J, Heegaard S, Drzewiecki KT, et al.
Pigment Cell Melanoma Res. 2012 Aug 13. [Epub ahead of print]

The Scan

Billions for Antivirals

The US is putting $3.2 billion toward a program to develop antivirals to treat COVID-19 in its early stages, the Wall Street Journal reports.

NFT of the Web

Tim Berners-Lee, who developed the World Wide Web, is auctioning its original source code as a non-fungible token, Reuters reports.

23andMe on the Nasdaq

23andMe's shares rose more than 20 percent following its merger with a special purpose acquisition company, as GenomeWeb has reported.

Science Papers Present GWAS of Brain Structure, System for Controlled Gene Transfer

In Science this week: genome-wide association study ties variants to white matter stricture in the brain, and more.