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

Two J&J Doses

Johnson & Johnson says two doses of its SARS-CoV-2 vaccine provides increased protection against symptomatic COVID-19, CNN reports.

Pfizer-BioNTech Vaccine Response in Kids

The Pfizer-BioNTech SARS-CoV-2 vaccine in a lower-dose format appears to generate an immune response among children, according to the Washington Post.

Chicken Changes to Prevent Disease

The Guardian writes that researchers are looking at gene editing chickens to help prevent future pandemics.

PNAS Papers on Siberian Dog Ancestry, Insect Reproduction, Hippocampal Neurogenesis

In PNAS this week: ancestry and admixture among Siberian dogs, hormone role in fruit fly reproduction, and more.