Medical implications of technical accuracy in genome sequencing
about
Deep sequencing of 10,000 human genomesOmics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism InvestigationsA reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.ReliableGenome: annotation of genomic regions with high/low variant calling concordance.Integrating precision cancer medicine into healthcare-policy, practice, and research challenges.From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.Alternate-locus aware variant calling in whole genome sequencing.CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.Reference standards for next-generation sequencing.A primer to clinical genome sequencingLong-read genome sequencing identifies causal structural variation in a Mendelian disease.Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.Which attributes of whole genome sequencing tests are most important to the general population? Results from a German preference study.A framework for the estimation of the proportion of true discoveries in single nucleotide variant detection studies for human data.ToTem: a tool for variant calling pipeline optimization.Identification of Misclassified ClinVar Variants via Disease Population PrevalenceSomatic genome alterations in relation to age in lung squamous cell carcinoma
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P2860
Medical implications of technical accuracy in genome sequencing
description
2016 nî lūn-bûn
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2016 թուականի Մարտին հրատարակուած գիտական յօդուած
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2016 թվականի մարտին հրատարակված գիտական հոդված
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2016年の論文
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2016年論文
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2016年論文
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2016年論文
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2016年論文
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2016年論文
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2016年论文
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Medical implications of technical accuracy in genome sequencing
@ast
Medical implications of technical accuracy in genome sequencing
@en
Medical implications of technical accuracy in genome sequencing
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Medical implications of technical accuracy in genome sequencing
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label
Medical implications of technical accuracy in genome sequencing
@ast
Medical implications of technical accuracy in genome sequencing
@en
Medical implications of technical accuracy in genome sequencing
@en-gb
Medical implications of technical accuracy in genome sequencing
@nl
prefLabel
Medical implications of technical accuracy in genome sequencing
@ast
Medical implications of technical accuracy in genome sequencing
@en
Medical implications of technical accuracy in genome sequencing
@en-gb
Medical implications of technical accuracy in genome sequencing
@nl
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P2860
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Medical implications of technical accuracy in genome sequencing
@en
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Daryl Waggott
Euan A Ashley
James R Priest
Marc Salit
Matthew T Wheeler
Rachel L Goldfeder
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P2888
P3181
P356
10.1186/S13073-016-0269-0
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P577
2016-03-02T00:00:00Z
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1015198906