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In Print: Last Week's Clinical Sequencing Papers of Note: Aug 15, 2012


Return of genetic results in the familial dilated cardiomyopathy research project.
Siegfried JD, Morales A, Kushner JD, Burkett E, et al.
J Genet Couns. 2012 Aug 11. [Epub ahead of print]

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Deardorff MA, Bando M, Nakato R, Watrin E, et al.
Nature. 2012 Aug 12. [Epub ahead of print]

Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics.
Schmitz R, Young RM, Ceribelli M, Jhavar S, et al.
Nature. 2012 Aug 12. [Epub ahead of print]

Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.
Andrade DM, Paton T, Turnbull J, Marshall CR, et al.
Pediatr Neurol. 2012 Sep;47(3):205-8.

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
Hassed SJ, Wiley GB, Wang S, Lee JY, et al.
Am J Hum Genet. 2012 Aug 10;91(2):391-5.

TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S, Legendre M, Saunier S, Bessières B, et al.
Am J Hum Genet. 2012 Aug 10;91(2):372-8.

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
Ishiura H, Sako W, Yoshida M, Kawarai T, et al.
Am J Hum Genet. 2012 Aug 10;91(2):320-9.

Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.
Zhang D, Lu L, Yang HB, Li M, et al.
Chin Med J (Engl). 2012 Jul;125(14):2482-6.

Origin, diversity, and maturation of human antiviral antibodies analyzed by high-throughput sequencing.
Prabakaran P, Zhu Z, Chen W, Gong R, et al.
Front Microbiol. 2012;3:277.

Routine use of microbial whole genome sequencing in diagnostic and public health microbiology.
Köser CU, Ellington MJ, Cartwright EJ, Gillespie SH, et al.
PLoS Pathog. 2012 Aug;8(8):e1002824.

Whole exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Campeau PM, Lu JT, Sule G, Jiang MM, et al.
Hum Mol Genet. 2012 Aug 8. [Epub ahead of print]

Alternative cleavage and polyadenylation during colorectal cancer development.
Morris AR, Bos A, Diosdado B, Rooijers K, et al.
Clin Cancer Res. 2012 Aug 8. [Epub ahead of print]

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.
Ozcelik H, Shi X, Chang MC, Tram E, et al.
Mol Diagn. 2012 Jul 28. [Epub ahead of print]

Global mutational profiling of formalin-fixed human colon cancers from a pathology archive.
Adams MD, Veigl ML, Wang Z, Molyneux N, et al.
Mod Pathol. 2012 Aug 10. [Epub ahead of print]

MicroRNA profiling of Epstein-Barr virus-associated NK/T-cell lymphomas by deep sequencing.
Motsch N, Alles J, Imig J, Zhu J, et al.
PLoS One. 2012;7(8):e42193.

Bacterial community shift in treated periodontitis patients revealed by Ion Torrent 16S rRNA gene amplicon sequencing.
Jünemann S, Prior K, Szczepanowski R, Harks I, et al.
PLoS One. 2012;7(8):e41606.

ChIPnorm: a statistical method for normalizing and identifying differential regions in histone modification ChIP-seq libraries.
Nair NU, Sahu AD, Bucher P, Moret BM.
PLoS One. 2012;7(8):e39573.

Increased inflammatory markers identified in the dorsolateral prefrontal cortex of individuals with schizophrenia.
Fillman SG, Cloonan N, Catts VS, Miller LC, et al.
Mol Psychiatry. 2012 Aug 7. [Epub ahead of print]

Ultra-high resolution HLA genotyping and allele discovery by highly multiplexed cDNA amplicon pyrosequencing.
Lank SM, Golbach BA, Creager HM, Wiseman RW, et al.
BMC Genomics. 2012 Aug 6;13(1):378.

The Scan

Study Links Evolution of Longevity, Social Organization in Mammals

With the help of comparative phylogenetics and transcriptomics, researchers in Nature Communications see ties between lifespan and social organization in mammals.

Tumor Microenvironment Immune Score Provides Immunotherapy Response, Prognostic Insights

Using multiple in situ analyses and RNA sequence data, researchers in eBioMedicine have developed a score associated with immunotherapy response or survival.

CRISPR-Based Method for Finding Cancer-Associated Exosomal MicroRNAs in Blood

A team from China presents in ACS Sensors a liposome-mediated membrane fusion strategy for detecting miRNAs carried in exosomes in the blood with a CRISPR-mediated reporter system.

Drug Response Variants May Be Distinct in Somatic, Germline Samples

Based on variants from across 21 drug response genes, researchers in The Pharmacogenomics Journal suspect that tumor-only DNA sequences may miss drug response clues found in the germline.