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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

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.

Researchers Reprogram Plant Roots With Synthetic Genetic Circuit Strategy

Root gene expression was altered with the help of genetic circuits built around a series of synthetic transcriptional regulators in the Nicotiana benthamiana plant in a Science paper.

Infectious Disease Tracking Study Compares Genome Sequencing Approaches

Researchers in BMC Genomics see advantages for capture-based Illumina sequencing and amplicon-based sequencing on the Nanopore instrument, depending on the situation or samples available.

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.