Variobox: Automatic detection and annotation of human genetic variants.
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Hum Mutat. 2013 Nov 4. [Epub ahead of print]
Alterations in chromatin accessibility and DNA methylation in clear cell renal cell carcinoma.
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Oncogene. 2013 Nov 4. [Epub ahead of print]
RNA-seq identifies clinically relevant fusion genes in leukemia including a novel MEF2D/CSF1R fusion responsive to imatinib.
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Leukemia. 2013 Nov 4. [Epub ahead of print]
A T18 false negative result by NIPT in a XXX, T18 case due to placental mosaicism.
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Ultrasound Obstet Gynecol. 2013 Nov 1. [Epub ahead of print]
Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.
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Nat Genet. 2013 Nov 3. [Epub ahead of print]
Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.
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Nat Genet. 2013 Nov 3. [Epub ahead of print]
DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies.
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J Mol Diagn. 2013 Oct 30. [Epub ahead of print]
Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas.
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Cancer Cell. 2013 Oct 30. [Epub ahead of print]
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
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Am J Hum Genet. 2013 Oct 30. [Epub ahead of print]
Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs.
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Twin Res Hum Genet. 2013 Nov 4:1-7. [Epub ahead of print]
Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.
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J Neurogenet. 2013 Nov 4. [Epub ahead of print]
C5orf42 is the major gene responsible for OFD syndrome type VI.
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Hum Genet. 2013 Nov 1. [Epub ahead of print]
Epidemiological investigation of Pseudomonas aeruginosa isolates from a six-year-long hospital outbreak using high-throughput whole genome sequencing.
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Euro Surveill. 2013 Oct 17;18(42).
Ultra-deep pyrosequencing and molecular modeling identify key structural features of hepatitis B virus RNase H, a putative target for antiviral intervention.
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J Virol. 2013 Oct 30. [Epub ahead of print]
Comprehensive genomic analyses of a metastatic colon cancer to the lung by whole exome sequencing and gene expression analysis.
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Int J Oncol. 2013 Oct 25. [Epub ahead of print]
Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.
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Clin Genet. 2013 Oct 30. [Epub ahead of print]
Rapid whole genome sequencing for the detection and characterization of microorganisms directly from clinical samples.
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J Clin Microbiol. 2013 Oct 30. [Epub ahead of print]
Feasibility of targeted next-generation sequencing of the TP53 and ATM genes in chronic lymphocytic leukemia.
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Leukemia. 2013 Oct 31. [Epub ahead of print]
WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme.
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Nucleic Acids Res. 2013 Oct 28. [Epub ahead of print]
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
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Eur J Hum Genet. 2013 Oct 30. [Epub ahead of print]
Isolation of human genomic DNA for genetic analysis from premature neonates: a comparison between newborn dried blood spots, whole blood and umbilical cord tissue.
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BMC Genet. 2013 Oct 29;14(1):105.
Identification of novel viruses using VirusHunter — an automated data analysis pipeline.
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PLOS One. 2013 Oct 22;8(10):e78470.
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
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Hum Mutat. 2013 Oct 25. [Epub ahead of print]
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
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Orphanet J Rare Dis. 2013 Oct 28;8(1):172.
Post-allogeneic monitoring with molecular markers detected by pre-transplant next-generation (NGS) or Sanger sequencing predicts clinical relapse in patients with myelodysplastic/myeloproliferative neoplasms.
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Eur J Haematol. 2013 Oct 25. [Epub ahead of print]
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
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Clin Genet. 2013 Oct 25. [Epub ahead of print]
Deep sequencing of viral genomes provides insight into the evolution and pathogenesis of varicella zoster virus and its vaccine in humans.
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Mol Biol Evol. 2013 Oct 25. [Epub ahead of print]
Improved exome prioritization of disease genes through cross species phenotype comparison.
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Genome Res. 2013 Oct 25. [Epub ahead of print]
A novel mutation of the SCL25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.
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Gene. 2013 Oct 23. [Epub ahead of print]