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Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

http://www.wikidata.org/entity/Q24649921

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Systematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicine Massively parallel sequencing: the next big thing in genetic medicine Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives Pairomics, the omics way to mate choice Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome Standardization and quality management in next-generation sequencing Targeted genome-wide enrichment of functional regions Use of phylogenetics in the molecular epidemiology and evolutionary studies of viral infections.Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations Systems biology in the context of big data and networks.Detection of mutations in myeloid malignancies through paired-sample analysis of microdroplet-PCR deep sequencing data.Genomics pipelines and data integration: challenges and opportunities in the research setting.Next-generation sequencing.Semi-automated library preparation for high-throughput DNA sequencing platforms.Managing Expectational Language: Translational genetic professionals consider the clinical potential of next-generation sequencing technologies.Privacy and data management in the era of massively parallel next-generation sequencing.Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.Transcriptional analysis of endocrine disruption using zebrafish and massively parallel sequencing SeqSharp: A general approach for improving cycle-sequencing that facilitates a robust one-step combined amplification and sequencing method.Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations Analysis of high-depth sequence data for studying viral diversity: a comparison of next generation sequencing platforms using Segminator II.Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity.Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.Discovery of genes related to insecticide resistance in Bactrocera dorsalis by functional genomic analysis of a de novo assembled transcriptome High-resolution, high-throughput HLA genotyping by next-generation sequencing.Evidence for the importance of personalized molecular profiling in pancreatic cancer.Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.Genometa--a fast and accurate classifier for short metagenomic shotgun reads Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.Genetic pathways leading to therapy-related myeloid neoplasms.Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing.Review of massively parallel DNA sequencing technologies.Current genetic methodologies in the identification of disaster victims and in forensic analysis Management of Incidental Findings in the Era of Next-generation Sequencing New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.Simple, multiplexed, PCR-based barcoding of DNA enables sensitive mutation detection in liquid biopsies using sequencing

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Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

http://www.wikidata.org/entity/Q24649921

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2008 nî lūn-bûn

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2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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The Journal of Molecular Diagnostics

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John R ten Bosch

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Connector inversion probe technology: a powerful one-primer multiplex DNA amplification system for numerous scientific applications

GENE SEQUENCING: The Race for the $1000 Genome

DNA sequencing with chain-terminating inhibitors

Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments

Highly accurate classification of Watson-Crick basepairs on termini of single DNA molecules

Genome sequencing in microfabricated high-density picolitre reactors

Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay

A new method for sequencing DNA

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

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