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Clin Chem. 2012 Oct 11. [Epub ahead of print]
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
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Hum Mutat. 2012 Oct 15. [Epub ahead of print]
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Genome Res. 2012 Oct 11. [Epub ahead of print]
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Nat Genet. 2012 Oct 14. [Epub ahead of print]
Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia.
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Nat Genet. 2012 Oct 14. [Epub ahead of print]
Bacterial flora of dental periradicular lesions analyzed by the 454-pyrosequencing technology.
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J Endod. 2012 Nov;38(11):1484-8. Epub 2012 Aug 9.
Pathogenic simian immunodeficiency virus infection is associated with expansion of the enteric virome.
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Cell. 2012 Oct 12;151(2):253-66.
Analysis of the cystic fibrosis lung microbiota via serial Illumina sequencing of bacterial 16S rRNA hypervariable regions.
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PLoS One. 2012;7(10):e45791.
A likelihood-based framework for variant calling and de novo mutation detection in families.
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PLoS Genet. 2012 Oct;8(10):e1002944.
Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia.
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J Med Genet. 2012 Oct;49(10):644-649.
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
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J Med Genet. 2012 Oct;49(10):630-5.
A balanced translocation truncates neurotrimin in a family with intracranial and thoracic aortic aneurysm.
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J Med Genet. 2012 Oct;49(10):621-9.
Phylogenetic analysis of non-O157 Shiga toxin-producing Escherichia coli by whole genome sequencing.
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J Clin Microbiol. 2012 Oct 10. [Epub ahead of print]
Prolonged and substantial discordance in prevalence of raltegravir-resistant HIV-1 in plasma versus PBMC samples revealed by 454 "deep" sequencing.
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PLoS One. 2012;7(9):e46181.
qpure: a tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles.
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PLoS One. 2012;7(9):e45835.
Gut bacterial profile in patients newly diagnosed with treatment-naïve Crohn's disease.
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Clin Exp Gastroenterol. 2012;5:173-186.
Digital transcriptome profiling of normal and glioblastoma-derived neural stem cells identifies genes associated with patient survival.
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Genome Med. 2012 Oct 9;4(10):76.
Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research.
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BMC Med Genomics. 2012 Oct 10;5(1):45.
Whole-exome sequencing of a pedigree segregating asthma.
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BMC Med Genet. 2012 Oct 9;13(1):95.
Next-generation sequencing and de novo assembly, genome organization, and comparative genomic analyses of the genomes of two Helicobacter pylori isolates from duodenal ulcer patients in India.
Kumar N, Mukhopadhyay AK, Patra R, De R, et al.
J Bacteriol. 2012 Nov;194(21):5963-4.
Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.
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Arch Ophthalmol. 2012 Oct 1;130(10):1301-8.
Microbiota of de-novo pediatric IBD: increased Faecalibacterium prausnitzii and reduced bacterial diversity in Crohn's but not in ulcerative colitis.
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Am J Gastroenterol. 2012 Oct 9. [Epub ahead of print]
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.
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Arch Neurol. 2012 Oct 8:1-7. [Epub ahead of print]
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Eur J Neurol. 2012 Oct 9. [Epub ahead of print]
Olorin: Combining gene flow with exome sequencing in large family studies of complex disease.
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Bioinformatics. 2012 Oct 10. [Epub ahead of print]
"Location, Location, Location": A spatial approach for rare-variant analysis and an application to a study on nonsyndromic cleft lip with or without cleft palate.
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Bioinformatics. 2012 Oct 8. [Epub ahead of print]