Skip to main content
Premium Trial:

Request an Annual Quote

In Print: Last Week's Clinical Sequencing Papers of Note: Jul 18, 2012


A public resource facilitating clinical use of genomes.
Ball MP, Thakuria JV, Zaranek AW, Clegg T, et al.
Proc Natl Acad Sci U S A. 2012 Jul 13. [Epub ahead of print]

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers.
Lee RS, Stewart C, Carter SL, Ambrogio L, et al.
J Clin Invest. 2012 Jul 16. [Epub ahead of print]

Exome sequencing and digital PCR analyses reveal novel mutated genes related to the metastasis of pancreatic ductal adenocarcinoma.
Zhou B, Irwanto A, Guo YM, Bei JX, et al.
Cancer Biol Ther. 2012 Aug 1;13(10). [Epub ahead of print]

De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Jones WD, Dafou D, McEntagart M, Woollard WJ, et al.
Am J Hum Genet. 2012 Jul 10. [Epub ahead of print]

PAPSS2 mutations cause autosomal recessive brachyolmia.
Miyake N, Elcioglu NH, Iida A, Isguven P, et al.
Med Genet. 2012 Jul 11. [Epub ahead of print]

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.
Davies WI, Downes SM, Fu JK, Shanks ME, et al.
Genet Med. 2012 Jul 12. [Epub ahead of print]

Genome-wide methylation profiling in decitabine-treated patients with acute myeloid leukemia.
Yan P, Frankhouser D, Murphy M, Tam HH, et al.
Blood. 2012 Jul 11. [Epub ahead of print]

Genetic studies in congenital anterior midline cervical cleft.
Jakobsen LP, Pfeiffer P, Andersen M, Eiberg H, et al.
Am J Med Genet A. 2012 Jul 11. [Epub ahead of print]

Mitochondrial DNA sequence variation associated with dementia and cognitive function in the elderly.
Tranah GJ, Nalls MA, Katzman SM, Yokoyama JS, et al.
J Alzheimers Dis. 2012 Jul 11. [Epub ahead of print]

Resolution of a meningococcal disease outbreak from whole genome sequence data with rapid web-based analysis methods.
Jolley KA, Hill DM, Bratcher HB, Harrison OB, et al.
J Clin Microbiol. 2012 Jul 11. [Epub ahead of print]

Comparison of a high resolution melting (HRM) assay to next generation sequencing for analysis of HIV diversity.
Cousins MM, Ou SS, Wawer MJ, Munshaw S, et al.
J Clin Microbiol. 2012 Jul 11. [Epub ahead of print]

Domain landscapes of somatic mutations in cancer.
Nehrt NL, Peterson TA, Park D, Kann MG.
BMC Genomics. 2012 Jun 18;13 Suppl 4:S9.

Prioritization of pathogenic mutations in the protein kinase superfamily.
Izarzugaza JM, Del Pozo A, Vazquez M, Valencia A.
BMC Genomics. 2012 Jun 18;13 Suppl 4:S3.

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Chen YZ, Matsushita MM, Robertson P, Rieder M, et al.
Arch Neurol. 2012 May 1;69(5):630-5.

Prenatal whole genome sequencing: just because we can, should we?
Donley G, Hull SC, Berkman BE.
Hastings Cent Rep. 2012 Jul-Aug;42(4):28-40.

Comprehensive 1-step molecular analyses of mitochondrial genome by massively parallel sequencing.
Zhang W, Cui H, Wong LJ.
Clin Chem. 2012 Jul 9. [Epub ahead of print]

The Scan

Study Finds Sorghum Genetic Loci Influencing Composition, Function of Human Gut Microbes

Focusing on microbes found in the human gut microbiome, researchers in Nature Communications identified 10 sorghum loci that appear to influence the microbial taxa or microbial metabolite features.

Treatment Costs May Not Coincide With R&D Investment, Study Suggests

Researchers in JAMA Network Open did not find an association between ultimate treatment costs and investments in a drug when they analyzed available data on 60 approved drugs.

Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.