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In Print: Last Week's Clinical Sequencing Papers of Note: Nov 1, 2012


Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
Zhang X, Guo BR, Cai LQ, Jiang T, et al.
J Med Genet. 2012 Oct 25. [Epub ahead of print]

Comparison of the gene expression profiles between smokers with and without lung cancer using RNA-seq.
Cheng P, Cheng Y, Li Y, Zhao Z, et al.
Asian Pac J Cancer Prev. 2012;13(8):3605-9.

Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
Levinsohn JL, Tian LC, Boyden LM, McNiff JM, et al.
J Invest Dermatol. 2012 Oct 25. [Epub ahead of print]

EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.
Coutant S, Cabot C, Lefebvre A, Léonard M, et al.
BMC Bioinformatics. 2012;13 Suppl 14:S9.

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Nava C, Lamari F, Héron D, Mignot C, et al.
Transl Psychiatry. 2012 Oct 23;2:e179.

Adoptive transfer of autologous T cells improves T cell repertoire diversity and long term B cell function in pediatric patients with neuroblastoma.
Grupp SA, Luning Prak E, Boyer J, McDonald KR, et al.
Clin Cancer Res. 2012 Oct 23. [Epub ahead of print]

Rapid detection and identification of Yersinia pestis from food using immunomagnetic separation and pyrosequencing.
Amoako KK, Shields MJ, Goji N, Paquet C, et al.
J Pathog. 2012;2012:781652. Epub 2012 Oct 3.

Targeted genomic sequencing of pediatric Burkitt lymphoma identifies recurrent alterations in anti-apoptotic and chromatin-remodeling genes.
Giulino-Roth L, Wang K, Macdonald TY, Mathew S, et al.
Blood. 2012 Oct 22. [Epub ahead of print]

Autozygosity mapping with exome sequence data.
Carr IM, Bhaskar S, O' Sullivan J, Aldhamesh MA, et al.
Hum Mutat. 2012 Oct 22. [Epub ahead of print]

The Scan

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.

SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource.

Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study

Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages.

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.