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In Print: Last Week's Clinical Sequencing Papers of Note: Jun 6, 2012


Exome sequencing and genetic testing for MODY.
Johansson S, Irgens H, Chudasama KK, Molnes J, et al.
PLoS One. 2012;7(5):e38050.

ColoSeq provides comprehensive Lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
Pritchard CC, Smith C, Salipante SJ, Lee MK, et al.
J Mol Diagn. 2012 May 29. [Epub ahead of print]

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
Kurek KC, Luks VL, Ayturk UM, Alomari AI, et al.
Am J Hum Genet. 2012 May 30. [Epub ahead of print]

Deep sequence analysis of non-small cell lung cancer: integrated analysis of gene expression, alternative splicing, and single nucleotide variations in lung adenocarcinomas with and without oncogenic KRAS mutations.
Kalari KR, Rossell D, Necela BM, Asmann YW, et al.
Front Oncol. 2012;2:12.

Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V, Vidal-Millan S, et al.
PLoS One. 2012;7(5):e37432.

Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy.
Zhi D, Irvin MR, Gu CC, Stoddard AJ, et al.
Front Genet. 2012;3:92.

Use of mutation profiles to refine the classification of endometrial carcinomas.
McConechy MK, Ding J, Cheang MC, Wiegand K, et al.
J Pathol. 2012 May 31. [Epub ahead of print]

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve-Melchior-Clausen locus.
Alshammari MJ, Al-Otaibi L, Alkuraya FS.
J Med Genet. 2012 May 31. [Epub ahead of print]

IMGT/HighV-QUEST: the IMGT web portal for immunoglobulin (IG) or antibody and T cell receptor (TR) analysis from NGS high throughput and deep sequencing.
Alamyar E, Giudicelli V, Li S, Duroux P, Lefranc MP.
Immunome Res. 2012 Apr 20;8(1):26.

Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma.
Weiss GJ, Liang WS, Izatt T, Arora S, et al.
PLoS One. 2012;7(5):e37029.

GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia.
Greif PA, Dufour A, Konstandin NP, Ksienzyk B, et al.
Blood. 2012 May 30. [Epub ahead of print]

Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA.
Forshew T, Murtaza M, Parkinson C, Gale D, et al.
Sci Transl Med. 2012 May 30;4(136):136ra68.

Dramatic reduction of sequence artefacts from DNA isolated from formalin-fixed cancer biopsies by treatment with uracil-DNA glycosylase.
Do H, Dobrovic A.
Oncotarget. 2012 May 24. [Epub ahead of print]

Quantifying selection in high-throughput immunoglobulin sequencing data sets.
Yaari G, Uduman M, Kleinstein SH.
Nucleic Acids Res. 2012 May 27. [Epub ahead of print]

The Scan

US Booster Eligibility Decision

The US CDC director recommends that people at high risk of developing COVID-19 due to their jobs also be eligible for COVID-19 boosters, in addition to those 65 years old and older or with underlying medical conditions.

Arizona Bill Before Judge

The Arizona Daily Star reports that a judge is weighing whether a new Arizona law restricting abortion due to genetic conditions is a ban or a restriction.

Additional Genes

Wales is rolling out new genetic testing service for cancer patients, according to BBC News.

Science Papers Examine State of Human Genomic Research, Single-Cell Protein Quantification

In Science this week: a number of editorials and policy reports discuss advances in human genomic research, and more.