Analytical validation of whole exome and whole genome sequencing for clinical applications - Wikidata - awgldk - TriplyDB

Analytical validation of whole exome and whole genome sequencing for clinical applications

Analytical validation of whole exome and whole genome sequencing for clinical applications

http://www.wikidata.org/entity/Q35155705

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Achieving high-sensitivity for clinical applications using augmented exome sequencing Medical implications of technical accuracy in genome sequencing Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?Impact of New Genomic Technologies on Understanding Adverse Drug Reactions Medical genomics: The intricate path from genetic variant identification to clinical interpretation Deep sequencing of 10,000 human genomes Genomic profiling reveals mutational landscape in parathyroid carcinomas Reducing INDEL calling errors in whole genome and exome sequencing data.Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken.SAAS-CNV: A Joint Segmentation Approach on Aggregated and Allele Specific Signals for the Identification of Somatic Copy Number Alterations with Next-Generation Sequencing Data.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.Detailed comparison of two popular variant calling packages for exome and targeted exon studies Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease.ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.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.A somatic reference standard for cancer genome sequencing.Responsible implementation of expanded carrier screening.Integrating precision cancer medicine into healthcare-policy, practice, and research challenges.The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.Reference standards for next-generation sequencing.Effect of lossy compression of quality scores on variant calling.Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.Exome sequencing of extreme clopidogrel response phenotypes identifies B4GALT2 as a determinant of on-treatment platelet reactivity.Insights into beta cell regeneration for diabetes via integration of molecular landscapes in human insulinomas.Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.Blood collection in cell-stabilizing tubes does not impact germline DNA quality for pediatric patients.Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity.Germline mutations in lysine specific demethylase 1 (LSD1/KDM1A) confer susceptibility to multiple myeloma.Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.Measuring coverage and accuracy of whole-exome sequencing in clinical context Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome

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Analytical validation of whole exome and whole genome sequencing for clinical applications

http://www.wikidata.org/entity/Q35155705

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2014 nî lūn-bûn

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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2014 թվականի ապրիլին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Eric E Schadt

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Hardik Shah

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Lisa Edelmann

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Michael D Linderman

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Milind Mahajan

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Omar Jabado

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Ruth Kornreich

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Tracy Brandt

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Yumi Kasai

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An integrated map of genetic variation from 1,092 human genomes

Fast and accurate short read alignment with Burrows-Wheeler transform

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

A framework for variation discovery and genotyping using next-generation DNA sequencing data

BEDTools: a flexible suite of utilities for comparing genomic features.

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

A systematic survey of loss-of-function variants in human protein-coding genes

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.

Variant callers for next-generation sequencing data: a comparison study.

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.

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10.1186/1755-8794-7-20

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Andrew Kasarskis

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