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Clinical Sequencing Papers of the Last Two Weeks

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Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma.
Kridel R, Meissner B, Rogic S, Boyle M, et al.
Blood. 2011 Dec 30. [Epub ahead of print]


Rapid genomic-scale analysis of Escherichia coli O104:H4 using high-resolution alternative methods to next generation sequencing.
Jackson SA, Kotewicz ML, Patel IR, Lacher DW, et al.
Appl Environ Microbiol. 2011 Dec 30. [Epub ahead of print]


Design and analytical validation of clinical DNA sequencing assays.
Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, Schrijver I, et al.
Arch Pathol Lab Med. 2012 Jan;136(1):41-6.


Targeted next-generation sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Lopezjimenez N, Flannick J, Yahyavi M, Li J, et al.
BMC Med Genet. 2011 Dec 28;12(1):172.


Use of Illumina deep sequencing technology to differentiate hepatitis C virus variants.
Ninomiya M, Ueno Y, Funayama R, Nagashima T, et al.
Clin Microbiol. 2011 Dec 28. [Epub ahead of print]


Expressed antibody repertoires in human cord blood cells: 454 sequencing and IMGT/HighV-QUEST analysis of germline gene usage, junctional diversity, and somatic mutations.
Prabakaran P, Chen W, Singarayan MG, Stewart CC, et al.
Immunogenetics. 2011 Dec 27. [Epub ahead of print]


Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
Rademakers R, Baker M, Nicholson AM, Rutherford NJ, et al.
Nat Genet. 2011 Dec 25. [Epub ahead of print]


Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, et al.
Nat Genet. 2011 Dec 25. [Epub ahead of print]


Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.
Stark MS, Woods SL, Gartside MG, Bonazzi VF, et al.
Nat Genet. 2011 Dec 25. [Epub ahead of print]


Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
Mitchell K, O'Sullivan J, Missero C, Blair E, et al.
Am J Hum Genet. 2011 Dec 20. [Epub ahead of print]


Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy.
Zhang Z, Xia W, He J, Zhang Z, et al.
Am J Hum Genet. 2011 Dec 20. [Epub ahead of print]


The origins of African Plasmodium vivax; insights from mitochondrial genome sequencing.
Culleton R, Coban C, Zeyrek FY, Cravo P, et al.
PLoS One. 2011;6(12):e29137.


Serum MicroRNA expression profile as a biomarker in the diagnosis and prognosis of pancreatic cancer.
Liu R, Chen X, Du Y, Yao W, et al.
Clin Chem. 2011 Dec 22. [Epub ahead of print]


COLD-PCR enrichment of rare cancer mutations prior to targeted amplicon resequencing.
Milbury CA, Correll M, Quackenbush J, Rubio R, Makrigiorgos GM.
Clin Chem. 2011 Dec 21. [Epub ahead of print]


Fusion of KIF5B and RET transforming gene in lung adenocarcinoma revealed from whole-genome and transcriptome sequencing.
Ju YS, Lee WC, Shin JY, Lee S, et al.
Genome Res. 2011 Dec 22. [Epub ahead of print]


Whole genome sequencing of matched primary and metastatic acral melanomas.
Turajlic S, Furney SJ, Lambros MB, Mitsopoulos C, et al.
Genome Res. 2011 Dec 19. [Epub ahead of print]


Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Tatton-Brown K, Hanks S, Ruark E, Zachariou A, et al.
Oncotarget. 2011 Dec 21. [Epub ahead of print]


Rare variants in the CYP27B1 gene are associated with multiple sclerosis.
Ramagopalan SV, Dyment DA, Cader MZ, Morrison KM, et al.
Ann Neurol. 2011 Dec;70(6):881-6.


Frequent deletions of JARID2 in leukemic transformation of chronic myeloid malignancies.
Puda A, Milosevic JD, Berg T, Klampfl T, et al.
Am J Hematol. 2011 Nov 18. [Epub ahead of print]


Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.
Heravi-Moussavi A, Anglesio MS, Cheng SW, Senz J, et al.
N Engl J Med. 2011 Dec 21. [Epub ahead of print]


Analysis of cancer metabolism with high-throughput technologies.
Markovets AA, Herman D.
BMC Bioinformatics. 2011 Oct 18;12 Suppl 10:S8.