Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
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Novel bioinformatic developments for exome sequencingIntegrating next-generation sequencing into clinical oncology: strategies, promises and pitfallsExplorations to improve the completeness of exome sequencingEnhanced whole exome sequencing by higher DNA insert lengths.RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.New tools and approaches to newborn screening: ready to open Pandora's box?Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.Assessment of the latest NGS enrichment capture methods in clinical context.MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiencyMutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.Clinical sequencing: is WGS the better WES?Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.Orthogonal NGS for High Throughput Clinical Diagnostics.A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.A comprehensive strategy for exome-based preconception carrier screening.Looking beyond the genes: the role of non-coding variants in human disease.The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.Evaluation of the evenness score in next-generation sequencing.The Rise and Rise of Exome Sequencing.A commentary on evaluation of the evenness score in next-generation sequencing.The clinical implications of molecular monitoring and analyses of inherited retinal diseases.Depletion of somatic mutations in splicing-associated sequences in cancer genomes.Genomic medicine for kidney disease.GIPS: A Software Guide to Sequencing-Based Direct Gene Cloning in Forward Genetics Studies.Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.Biomarkers: paving stones on the road towards the personalized precision medicine for oral squamous cell carcinomaMutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network AnalysisDetecting Copy Number Variation via Next Generation TechnologyA comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia
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P2860
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Comparison of Exome and Genome ...... ure of Protein-Coding Regions.
@en
type
label
Comparison of Exome and Genome ...... ure of Protein-Coding Regions.
@en
prefLabel
Comparison of Exome and Genome ...... ure of Protein-Coding Regions.
@en
P2093
P2860
P50
P356
P1433
P1476
Comparison of Exome and Genome ...... ure of Protein-Coding Regions.
@en
P2093
Christian Gilissen
Stefan H Lelieveld
Stefan Mundlos
P2860
P304
P356
10.1002/HUMU.22813
P577
2015-06-11T00:00:00Z