Improving HIV coreceptor usage prediction in the clinic using hints from next-generation sequencing data.
Pfeifer N, Lengauer T.
Bioinformatics. 2012 Sep 15;28(18):i589-i595.
An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis.
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Bioinformatics. 2012 Sep 15;28(18):i370-i374.
FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma.
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Bioinformatics. 2012 Sep 8. [Epub ahead of print]
GREVE: Genomic Recurrent Event ViEwer to assist the identification of patterns across individual cancer samples.
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Bioinformatics. 2012 Sep 8. [Epub ahead of print]
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
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Hum Mol Genet. 2012 Sep 8. [Epub ahead of print]
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
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Nat Genet. 2012 Sep 9. [Epub ahead of print]
Comprehensive genomic characterization of squamous cell lung cancers.
The Cancer Genome Atlas Research Network
Nature. 2012 Sep 9. [Epub ahead of print]
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.
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Gastroenterology. 2012 Sep 6. [Epub ahead of print]
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
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Am J Hum Genet. 2012 Sep 7;91(3):541-7.
Loss of SUFU function in familial multiple meningioma.
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Am J Hum Genet. 2012 Sep 7;91(3):520-6.
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.
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Am J Hum Genet. 2012 Sep 7;91(3):513-9.
Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.
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Clin Genet. 2012 Sep 7. [Epub ahead of print]
Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.
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Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update.
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Genet Med. 2012 Sep 6. [Epub ahead of print]
Exploring bacterial diversity in hospital environments by GS-FLX Titanium pyrosequencing.
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PLoS One. 2012;7(8):e44105.
Allele-biased expression in differentiating human neurons: implications for neuropsychiatric disorders.
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PLoS One. 2012;7(8):e44017.
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
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PLoS One. 2012;7(8):e43799.
A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina.
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PLoS One. 2012;7(8):e43085.
Identification of retinol binding protein 1 promoter hypermethylation in isocitrate dehydrogenase 1 and 2 mutant gliomas.
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J Natl Cancer Inst. 2012 Sep 3. [Epub ahead of print]
Myelodysplastic syndrome with a t(2;11)(p21;q23-24) and translocation breakpoint close to miR-125b-1.
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Cancer Genet. 2012 Aug 31. [Epub ahead of print]
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
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Hum Mutat. 2012 Sep 4. [Epub ahead of print]
Feasibility of real time next generation sequencing of cancer genes linked to drug response: Results from a clinical trial.
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Int J Cancer. 2012 Sep 5. [Epub ahead of print]
High-throughput sequencing reveals the incomplete, short-term, recovery of the infant gut microbiota following parenteral antibiotic treatment with ampicillin and gentamycin.
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Antimicrob Agents Chemother. 2012 Sep 4. [Epub ahead of print]
Large-scale MHC class II genotyping of a wild lemur population by next generation sequencing.
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Immunogenetics. 2012 Sep 5. [Epub ahead of print]
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Genes Dev. 2012 Sep 1;26(17):1972-83.