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Last Week's Clinical Sequencing Papers of Note: Oct 26, 2011


Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Pierson TM, Adams D, Bonn F, Martinelli P, et al.
PLoS Genet. 2011 Oct;7(10):e1002325.

A wide extent of inter-strain diversity in virulent and vaccine strains of alphaherpesviruses.
Szpara ML, Tafuri YR, Parsons L, Shamim SR, et al.
PLoS Pathog. 2011 Oct;7(10):e1002282.

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Raychaudhuri S, Iartchouk O, Chin K, Tan PL, et al.
Nat Genet. 2011 Oct 23. [Epub ahead of print]

Whole genome analysis of multiple rotavirus strains from a single stool specimen using sequence-independent amplification and 454® pyrosequencing reveals evidence of intergenotype genome segment recombination.
Jere KC, Mlera L, Page NA, van Dijk AA, O'Neill HG.
Infect Genet Evol. 2011 Oct 11. [Epub ahead of print]

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.
Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, et al.
Mol Genet Metab. 2011 Sep 24. [Epub ahead of print]

TET2 deletions are a recurrent but rare phenomenon in myeloid malignancies and are frequently accompanied by TET2 mutations on the remaining allele.
Bacher U, Weissmann S, Kohlmann A, Schindela S, et al.
Br J Haematol. 2011 Oct 24. [Epub ahead of print]

Array based sequence capture and next generation sequencing for identification of primary immunodeficiencies.
Ghosh S, Krux F, Binder V, Gombert M, et al.
Scand J Immunol. 2011 Oct 20. [Epub ahead of print]

Next-generation DNA sequencing-based assay for measuring allelic expression imbalance (AEI) of candidate neuropsychiatric disorder genes in human brain.
Xu X, Wang H, Zhu M, Sun Y, et al.
BMC Genomics. 2011 Oct 20;12(1):518.

Ultrasensitive detection of rare mutations using next-generation targeted resequencing.
Flaherty P, Natsoulis G, Muralidharan O, Winters M, et al.
Nucleic Acids Res. 2011 Oct 19. [Epub ahead of print]

Evolutionary dynamics of local pandemic H1N1/09 influenza lineages revealed by whole genome analysis.
Baillie GJ, Galiano M, Agapow PM, Myers R, et al.
J Virol. 2011 Oct 19. [Epub ahead of print]

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
Weterman MA, Sorrentino V, Kasher PR, Jakobs ME, et al.
Hum Mol Genet. 2011 Oct 19. [Epub ahead of print]

Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype.
Grossmann V, Tiacci E, Holmes AB, Kohlmann A, et al.
Blood. 2011 Oct 19. [Epub ahead of print]

Fusobacterium nucleatum infection is prevalent in human colorectal carcinoma.
Castellarin M, Warren RL, Freeman JD, Dreolini L, et al.
Genome Res. 2011 Oct 18. [Epub ahead of print]

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study.
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, et al.
Genet Med. 2011 Oct 14. [Epub ahead of print]
(see our coverage of this paper in last week's issue here)

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.
Aliferis K, Hellé S, Gyapay G, Duchatelet S, et al.
Ophthalmic Genet. 2011 Oct 17. [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.