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In Print: Last Week's Clinical Sequencing Papers of Note: May 2, 2012


Determination of RET sequence variation in an MEN2 unaffected cohort using multiple-sample pooling and next-generation sequencing.
Margraf RL, Durtschi JD, Stephens JE, Perez M, Voelkerding KV.
J Thyroid Res. 2012;2012:318232.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, et al.
Nat Genet. 2012 Apr 29. [Epub ahead of print]

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Koolen DA, Kramer JM, Neveling K, Nillesen WM, et al.
Nat Genet. 2012 Apr 29. [Epub ahead of print]

Absolute quantification of somatic DNA alterations in human cancer.
Carter SL, Cibulskis K, Helman E, McKenna A, et al.
Nat Biotechnol. 2012 Apr 29. [Epub ahead of print]

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K, Wiskin AE, Gibson J, Tapper W, et al.
Gut. 2012 Apr 28. [Epub ahead of print]

De novo gene disruptions in children on the autistic spectrum.
Iossifov I, Ronemus M, Levy D, Wang Z, et al.
Neuron. 2012 Apr 26;74(2):285-99.

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
Kirwan M, Walne AJ, Plagnol V, Velangi M, et al.
Am J Hum Genet. 2012 Apr 26. [Epub ahead of print]

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, et al.
Am J Hum Genet. 2012 Apr 26. [Epub ahead of print]

MicroRNA genes and their target 3'-untranslated regions are infrequently somatically mutated in ovarian cancers.
Ryland GL, Bearfoot JL, Doyle MA, Boyle SE, et al.
PLoS One. 2012;7(4):e35805.

Rare variants in ischemic stroke: an exome pilot study.
Cole JW, Stine OC, Liu X, Pratap A, et al.
PLoS One. 2012;7(4):e35591.

Characterizing mutational heterogeneity in a glioblastoma patient with double recurrence.
Nickel GC, Barnholtz-Sloan J, Gould MP, McMahon S, et al.
PLoS One. 2012;7(4):e35262.

Mitochondrial diabetes in children: seek and you will find it.
Mazzaccara C, Iafusco D, Liguori R, Ferrigno M, et al.
PLoS One. 2012;7(4):e34956.

Iodotyrosine deiodinase defect identified via genome-wide approach.
Burniat A, Pirson I, Vilain C, Kulik W, et al.
J Clin Endocrinol Metab. 2012 Apr 24. [Epub ahead of print]

Genome-wide DNA methylation analysis reveals novel epigenetic changes in chronic lymphocytic leukemia.
Pei L, Choi JH, Liu J, Lee EJ, et al.
Epigenetics. 2012 Jun 1;7(6).

Modelling the evolutionary dynamics of viruses within their hosts: a case study using high-throughput sequencing.
Fabre F, Montarry J, Coville J, Senoussi R, et al.
PLoS Pathog. 2012 Apr;8(4):e1002654.

Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms.
Tabor HK, Stock J, Brazg T, McMillin MJ, et al.
Am J Med Genet A. 2012 Apr 24. [Epub ahead of print]

Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children.
Sällman Almén M, Rask-Andersen M, Jacobsson JA, Ameur A, et al.
Int J Obes (Lond). 2012 Apr 24. [Epub ahead of print]

Methylcap-seq reveals novel DNA methylation markers for the diagnosis and recurrence prediction of bladder cancer in a chinese population.
Zhao Y, Guo S, Sun J, Huang Z, et al.
PLoS One. 2012;7(4):e35175.

Molecular-phylogenetic characterization of the microbiota in ulcerated and non-ulcerated regions in the patients with Crohn's disease.
Li Q, Wang C, Tang C, Li N, Li J.
PLoS One. 2012;7(4):e34939.

Differential expression of miRNAs in colorectal cancer: comparison of paired tumor tissue and adjacent normal mucosa using high-throughput sequencing.
Hamfjord J, Stangeland AM, Hughes T, Skrede ML, et al.
PLoS One. 2012;7(4):e34150.

Whole genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution and clonal tides.
Egan JB, Shi CX, Tembe W, Christoforides A, et al.
Blood. 2012 Apr 23. [Epub ahead of print]

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.
Snape K, Ruark E, Tarpey P, Renwick A, et al.
Breast Cancer Res Treat. 2012 Apr 18. [Epub ahead of print]

Next generation sequencing for molecular diagnosis of neuromuscular diseases.
Vasli N, Böhm J, Le Gras S, Muller J, et al.
Acta Neuropathol. 2012 Apr 18. [Epub ahead of print]

The Scan

Purnell Choppin Dies

Purnell Choppin, a virologist who led the Howard Hughes Medical Institute, has died at 91, according to the Washington Post.

Effectiveness May Decline, Data From Israel Suggests

The New York Times reports that new Israeli data suggests a decline in Pfizer-BioNTech SARS-CoV-2 vaccine effectiveness against Delta variant infection, though protection against severe disease remains high.

To See Future Risk

Slate looks into the use of polygenic risk scores in embryo screening.

PLOS Papers on Methicillin-Resistant Staphylococcus, Bone Marrow Smear Sequencing, More

In PLOS this week: genomic analysis of methicillin-resistant Staphylococcus pseudintermedius, archived bone marrow sequencing, and more.