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Last Week's Clinical Sequencing Papers of Note: Oct 12, 2011


Temporal dissection of tumorigenesis in primary cancers.
Durinck S, Ho C, Wang NJ, Liao W, et al.
Cancer Discov. 2011 Jul 1;1(2):137-143.

Multiple gene dysfunctions lead to high cancer-susceptibility: evidences from a whole-exome sequencing study.
He ML, Chen Y, Chen Q, He Y, et al.
Am J Cancer Res. 2011;1(4):562-73.

Plasma nucleic acid analysis by massively parallel sequencing: pathological insights and diagnostic implications.
Dennis Lo Y, Chiu RW.
J Pathol. 2011 Nov;225(3):318-23.

Identification of low-frequency variants associated with gout and serum uric acid levels.
Sulem P, Gudbjartsson DF, Walters GB, Helgadottir HT, et al.
Nat Genet. 2011 Oct 9. [Epub ahead of print]

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas MA, Beaudoin M, Gardet A, Stevens C, et al.
Nat Genet. 2011 Oct 9. [Epub ahead of print]

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, et al.
Am J Hum Genet. 2011 Oct 7;89(4):551-63.

ProteinSeq: high-performance proteomic analyses by proximity ligation and next-generation sequencing.
Darmanis S, Nong RY, Vänelid J, Siegbahn A, et al.
PLoS One. 2011;6(9):e25583.

Practical tools to implement massive parallel pyrosequencing of PCR products in next-generation molecular diagnostics.
De Leeneer K, De Schrijver J, Clement L, Baetens M, et al.
PLoS One. 2011;6(9):e25531.

MicroRNAs associated with metastatic prostate cancer.
Watahiki A, Wang Y, Morris J, Dennis K, et al.
PLoS One. 2011;6(9):e24950.

Genomic analysis of the Vaccinia virus strain variants found in Dryvax vaccine.
Qin L, Upton C, Hazes B, Evans DH.
J Virol. 2011 Oct 5. [Epub ahead of print]

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, et al.
Hum Mol Genet. 2011 Oct 4. [Epub ahead of print]

Native molecular state of adeno-associated viral vectors revealed by single-molecule sequencing.
Kapranov P, Chen L, Dederich D, Dong B, et al.
Hum Gene Ther. 2011 Oct 4. [Epub ahead of print]

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.
Lim BC, Lee S, Shin JY, Kim JI, et al.
J Med Genet. 2011 Oct 3. [Epub ahead of print]

Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia.
Kim MJ, Kim ST, Lee HD, Lee KY, et al.
BMC Med Genet. 2011 Oct 3;12(1):130.

The Scan

Study Reveals Details of SARS-CoV-2 Spread Across Brazil

A genomic analysis in Nature Microbiology explores how SARS-CoV-2 spread into, across, and from Brazil.

New Study Highlights Utility of Mutation Testing in Anaplastic Thyroid Cancer

Genetic mutations in BRAF and RAS are associated with patient outcomes in anaplastic thyroid carcinoma, a new JCO Precision Oncology study reports.

Study Points to Increased Risk of Dangerous Blood Clots in COVID-19 Patients

An analysis in JAMA Internal Medicine finds that even mild COVID-19 increases risk of venous thromboembolism.

Y Chromosome Study Reveals Details on Timing of Human Settlement in Americas

A Y chromosome-based analysis suggests South America may have first been settled more than 18,000 years ago, according to a new PLOS One study.