Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.
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Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnosticsFrom next-generation resequencing reads to a high-quality variant data set.Targeted Sequencing Reveals Large-Scale Sequence Polymorphism in Maize Candidate Genes for Biomass Production and Composition.Detection and characterization of small insertion and deletion genetic variants in modern layer chicken genomes.VariantMetaCaller: automated fusion of variant calling pipelines for quantitative, precision-based filtering.Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.Frequency and type of inheritable mutations induced by γ rays in rice as revealed by whole genome sequencing.Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies.Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.Principles of analytical validation of next-generation sequencing based mutational analysis for hematologic neoplasms in a CLIA-certified laboratory.A thesaurus of genetic variation for interrogation of repetitive genomic regions.Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer.Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing.SNP discovery in nonmodel organisms: strand bias and base-substitution errors reduce conversion rates.Valection: design optimization for validation and verification studies
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Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 29 January 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Comprehensive analysis to impr ...... by next-generation sequencing.
@en
Comprehensive analysis to impr ...... by next-generation sequencing.
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type
label
Comprehensive analysis to impr ...... by next-generation sequencing.
@en
Comprehensive analysis to impr ...... by next-generation sequencing.
@nl
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Comprehensive analysis to impr ...... by next-generation sequencing.
@en
Comprehensive analysis to impr ...... by next-generation sequencing.
@nl
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Comprehensive analysis to impr ...... by next-generation sequencing.
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Bo-Young Kim
Byung-Ok Choi
Hae-Mi Woo
Hwanseok Rhee
Hyung Jin Kim
Ji-Won Jung
Jung Hoon Park
Ki Wha Chung
Mi-Hyun Park
Soo Kyung Koo
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10.1371/JOURNAL.PONE.0086664
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2014-01-29T00:00:00Z