Skip to main content
Premium Trial:

Request an Annual Quote

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

Driving Malaria-Carrying Mosquitoes Down

Researchers from the UK and Italy have tested a gene drive for mosquitoes to limit the spread of malaria, NPR reports.

Office Space to Lab Space

The New York Times writes that some empty office spaces are transforming into lab spaces.

Prion Pause to Investigate

Science reports that a moratorium on prion research has been imposed at French public research institutions.

Genome Research Papers on Gut Microbe Antibiotic Response, Single-Cell RNA-Seq Clues to Metabolism, More

In Genome Research this week: gut microbial response to antibiotic treatment, approach to gauge metabolic features from single-cell RNA sequencing, and more.