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In Print: Last Week's Clinical Sequencing Papers of Note: Feb 27, 2013


Identification of circulating microRNAs as potential biomarkers for detecting acute myeloid leukemia.
Zhi F, Cao X, Xie X, Wang B, et al.
PLoS One. 2013;8(2):e56718.

A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse.
Lugani F, Arora R, Papeta N, Patel A, et al.
PLoS Genet.2013 Feb;9(2):e1003206.

Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.
Vlangos CN, Siuniak AN, Robinson D, Chinnaiyan AM, et al.
PLoS Genet. 2013 Feb;9(2):e1003205.

Characterization of IgH breakpoints in multiple myeloma indicates a subset of translocations appear to occur In pre-germinal center B cells.
Walker BA, Wardell CP, Johnson DC, Kaiser MF, et al.
Blood. 2013 Feb 22. [Epub ahead of print]

Quantitative assessment of T cell repertoire recovery after hematopoietic stem cell transplantation.
van Heijst JW, Ceberio I, Lipuma LB, Samilo DW, et al.
Nat Med. 2013 Feb 24. [Epub ahead of print]

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
Saitsu H, Nishimura T, Muramatsu K, Kodera H, et al.
Nat Genet. 2013 Feb 24. [Epub ahead of print]

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, et al.
Nephron Physiol. 2013 Feb 23;122(1-2):1-6.

Mutations in WNT1 are a cause of osteogenesis imperfecta.
Fahiminiya S, Majewski J, Mort J, Moffatt P, et al.
J Med Genet. 2013 Feb 23. [Epub ahead of print]

ARHGDIA: a novel gene implicated in nephrotic syndrome.
Gupta IR, Baldwin C, Auguste D, Ha KC, et al.
J Med Genet. 2013 Feb 22. [Epub ahead of print]

Multiplexed deep sequencing analysis of ALK kinase domain identifies resistance mutations in relapsed patients following crizotinib treatment.
Huang D, Kim DW, Kotsakis A, Deng S, et al.
Genomics. 2013 Feb 19. [Epub ahead of print]

Epigenomic plasticity enables human pancreatic α to β cell reprogramming.
Bramswig NC, Everett LJ, Schug J, Dorrell C, et al.
J Clin Invest. 2013 Feb 22. [Epub ahead of print]

Identification of somatic mutations in human prostate cancer by RNA-seq.
Xu X, Zhu K, Liu F, Wang Y, et al.
Gene. 2013 Feb 19. [Epub ahead of print]

Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
Soong BW, Huang YH, Tsai PC, Huang CC, et al.
Am J Hum Genet. 2013 Feb 19. [Epub ahead of print]

ACTN1 mutations cause congenital macrothrombocytopenia.
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, et al.
Am J Hum Genet. 2013 Feb 19. [Epub ahead of print]

Pattern discovery and cancer gene identification in integrated cancer genomic data.
Mo Q, Wang S, Seshan VE, Olshen AB, et al.
Proc Natl Acad Sci U S A. 2013 Feb 21. [Epub ahead of print]

NDUFS8-related complex I deficiency extends phenotype from "PEO plus" to Leigh syndrome.
Marina AD, Schara U, Pyle A, Möller-Hartmann C, et al.
JIMD Rep. 2012 Nov 18. [Epub ahead of print]

Exome sequencing identifies an MLL3 gene germ line mutation in a pedigree of colorectal cancer and acute myeloid leukemia.
Li WD, Li QR, Xu SN, Wei FJ, et al.
Blood. 2013 Feb 21;121(8):1478-9.

Use of cellular HIV DNA to predict virologic response to maraviroc: performance of population-based and deep sequencing.
Swenson LC, Dong WW, Mo T, Demarest J, et al.
Clin Infect Dis. 2013 Feb 21. [Epub ahead of print]

Estimating the ratio of CD4+ to CD8+ T cells using high-throughput sequence data.
Emerson R, Sherwood A, Desmarais C, Malhotra S, et al.
J Immunol Methods. 2013 Feb 18. pii: S0022-1759(13)00058-6.

Multiple KRAS mutations in pancreatic adenocarcinoma: molecular features of neoplastic clones indicate the selection of divergent populations of tumor cells.
Visani M, de Biase D, Baccarini P, Fabbri C, et al.
Int J Surg Pathol. 2013 Feb 19. [Epub ahead of print]

Rare variant detection using family-based sequencing analysis.
Peng G, Fan Y, Palculict TB, Shen P, et al.
Proc Natl Acad Sci U S A. 2013 Feb 20. [Epub ahead of print]

Retrospective analysis of whole genome sequencing compared to prospective typing data in further informing the epidemiological investigation of an outbreak of Shigella sonnei in the UK.
McDonnell J, Dallman T, Atkin S, Turbitt DA, et al.
Epidemiol Infect. 2013 Feb 21:1-8. [Epub ahead of print]

Minimal residual disease quantification using consensus primers and high-throughput sequencing predicts post-transplant relapse in chronic lymphocytic leukemia.
Logan AC, Zhang B, Narasimhan B, Carlton V, et al.
Leukemia. 2013 Feb 19. [Epub ahead of print]

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].
Schröder JC, Läßig AK, Galetzka D, Peters A, et al.
Behav Brain Funct. 2013 Feb 18;9(1):7.

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.
Chin EL, da Silva C, Hegde M.
BMC Genet. 2013 Feb 19;14(1):6.