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In Print: Last Week's Clinical Sequencing Papers of Note: Mar 28, 2012


Sequence analysis of KSHV microRNAs in patients with multicentric Castleman disease and KSHV-associated inflammatory cytokine syndrome.
Ray A, Marshall V, Uldrick T, Leighty R, et al.
J Infect Dis. 2012 Mar 23. [Epub ahead of print]

Mutations in CIZ1 cause adult onset primary cervical dystonia.
Xiao J, Uitti RJ, Zhao Y, Vemula SR, et al.
Ann Neurol. 2012 Feb 1. [Epub ahead of print]

Characterization of the uterine leiomyoma microRNAome by deep sequencing.
Georgieva B, Milev I, Minkov I, Dimitrova I, et al.
Genomics. 2012 Mar 16. [Epub ahead of print]

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
Ng BG, Hackmann K, Jones MA, Eroshkin AM, et al.
Am J Hum Genet. 2012 Mar 20. [Epub ahead of print]

ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data.
Asimit JL, Day-Williams AG, Morris AP, Zeggini E.
Hum Hered. 2012 Mar 22;73(2):84-94.

Familial diarrhea syndrome caused by an activating GUCY2C mutation.
Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, et al.
N Engl J Med. 2012 Mar 21. [Epub ahead of print]

Quantitative genome re-sequencing defines multiple mutations conferring chloroquine resistance in rodent malaria.
Modrzynska KK, Creasey A, Loewe L, Cezard T, et al.
BMC Genomics. 2012 Mar 21;13(1):106.

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.
Arboleda VA, Lee H, Sanchez F, Délot E, Sandberg DE, et al.
Clin Genet. 2012 Mar 21. [Epub ahead of print]

Isolation and optimization of murine IL-10 receptor blocking oligonucleotide aptamers using high-throughput sequencing.
Berezhnoy A, Stewart CA, McNamara Ii JO, Thiel W, et al.
Mol Ther. 2012 Mar 20. [Epub ahead of print]

Genome sequence of E. coli O104:H4 leads to rapid development of a targeted antimicrobial agent against this emerging pathogen.
Scholl D, Gebhart D, Williams SR, Bates A, Mandrell R.
PLoS One. 2012;7(3):e33637.

Small RNA sequencing reveals microRNAs that modulate angiotensin II effects in vascular smooth muscle cells.
Jin W, Reddy MA, Chen Z, Putta S, et al.
J Biol Chem. 2012 Mar 19. [Epub ahead of print]

Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms reveals recurrent SRSF2 mutations which are associated with adverse outcome.
Zhang SJ, Rampal R, Manshouri T, Patel J, et al.
Blood. 2012 Mar 19. [Epub ahead of print]

A key role for EZH2 and associated genes in mouse and human adult T-cell acute leukemia.
Simon C, Chagraoui J, Krosl J, Gendron P, et al.
Genes Dev. 2012 Mar 19. [Epub ahead of print]

Deep intronic APC mutations explain a substantial proportion of patients with familial or early onset adenomatous polyposis.
Spier I, Horpaopan S, Vogt S, Uhlhaas S, et al.
Hum Mutat. 2012 Mar 19. [Epub ahead of print]

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-rRNA processing defect in Diamond-Blackfan anemia.
Gazda HT, Preti M, Sheen MR, O'Donohue MF, et al.
Hum Mutat. 2012 Mar 19. [Epub ahead of print]

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, Sanchez-Herranz A.
Muscle Nerve. 2012 Apr;45(4):605-10.

Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1 mutated FPD/AML pedigrees.
Buijs A, Poot M, van der Crabben S, van der Zwaag B, et al.
Leukemia. 2012 Mar 20. [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.