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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

More Boosters for US

Following US Food and Drug Administration authorization, the Centers for Disease Control and Prevention has endorsed booster doses of the Moderna and Johnson & Johnson SARS-CoV-2 vaccines, the Washington Post writes.

From a Pig

A genetically modified pig kidney was transplanted into a human without triggering an immune response, Reuters reports.

For Privacy's Sake

Wired reports that more US states are passing genetic privacy laws.

Science Paper on How Poaching Drove Evolution in African Elephants

In Science this week: poaching has led to the rapid evolution of tuskless African elephants.