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Clinical Sequencing Papers of Note: Jun 29, 2011


De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Hoischen A, van Bon BW, Rodríguez-Santiago B, et al.
Nat Genet. 2011 Jun 26. [Epub ahead of print]

The genome sequence drafts of two Pseudomonas aeruginosa clinical isolates with different antibiotic susceptibilities.
Soares-Castro P, Marques D, Demyanchuk S, Faustino A, Santos PM.
J Bacteriol. 2011 Jun 24. [Epub ahead of print]

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4.
Nicholson G, Lenk GM, Reddel SW, et al.
Brain. 2011 Jul;134(Pt 7):1959-71.

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Klassen T, Davis C, Goldman A, et al.
Cell. 2011 Jun 24;145(7):1036-48.

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H, Jackson DG, Kayne PS, et al.
PLoS One. 2011;6(6):e21097. Epub 2011 Jun 20.

Enriching targeted sequencing experiments for rare disease alleles.
Edwards TL, Song Z, Li C.
Bioinformatics. 2011 Jun 23. [Epub ahead of print]

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Rope AF, Wang K, Evjenth R, et al.
Am J Hum Genet. 2011 Jun 22. [Epub ahead of print]

Translational database selection and multiplexed sequence capture for up front filtering of reliable breast cancer biomarker candidates.
Ståhl PL, Bjursell MK, Mahdessian H, Hober S, Jirström K, Lundeberg J.
PLoS One. 2011;6(6):e20794. Epub 2011 Jun 15.

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Sanna-Cherchi S, Burgess KE, Nees SN, et al.
Kidney Int. 2011 Jun 22. [Epub ahead of print]

Identification of HIV superinfection in seroconcordant couples in Rakai, Uganda using next generation deep sequencing.
Redd AD, Collinson-Streng A, Martens C, et al.
J Clin Microbiol. 2011 Jun 22. [Epub ahead of print]

Identification of novel SNPs in glioblastoma using targeted resequencing.
Keller A, Harz C, Matzas M, et al.
PLoS One. 2011;6(6):e18158. Epub 2011 Jun 10.

Exome sequencing identifies ZNF644 mutations in high myopia.
Shi Y, Li Y, Zhang D, et al.
PLoS Genet. 2011 Jun;7(6):e1002084. Epub 2011 Jun 9.

Small RNA sequencing and functional characterization reveals microRNA-143 tumor suppressor activity in liposarcoma.
Ugras S, Brill ER, Jacobsen A, et al.
Cancer Res. 2011 Jun 21. [Epub ahead of print]

Deep intronic variations may cause mild hemophilia A.
Castaman G, Giacomelli SH, Mancuso ME, et al.
J Thromb Haemost. 2011 Jun 20. [Epub ahead of print]

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.