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

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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.

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

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