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.
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Appl Environ Microbiol. 2011 Dec 30. [Epub ahead of print]
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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.
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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.
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Immunogenetics. 2011 Dec 27. [Epub ahead of print]
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
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Nat Genet. 2011 Dec 25. [Epub ahead of print]
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
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Nat Genet. 2011 Dec 25. [Epub ahead of print]
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Nat Genet. 2011 Dec 25. [Epub ahead of print]
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
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Am J Hum Genet. 2011 Dec 20. [Epub ahead of print]
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy.
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Am J Hum Genet. 2011 Dec 20. [Epub ahead of print]
The origins of African Plasmodium vivax; insights from mitochondrial genome sequencing.
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PLoS One. 2011;6(12):e29137.
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Clin Chem. 2011 Dec 22. [Epub ahead of print]
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Clin Chem. 2011 Dec 21. [Epub ahead of print]
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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.
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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.
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Am J Hematol. 2011 Nov 18. [Epub ahead of print]
Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.
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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.