Variant detection sensitivity and biases in whole genome and exome sequencing.
about
Achieving high-sensitivity for clinical applications using augmented exome sequencingMedical implications of technical accuracy in genome sequencingDevelopments in our understanding of the genetic basis of birth defectsThe genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discoveryThe Genetic Structure of Marijuana and HempExplorations to improve the completeness of exome sequencingEnhanced whole exome sequencing by higher DNA insert lengths.A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.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.Impact of post-alignment processing in variant discovery from whole exome dataNovel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.Whole-Genome Sequence of the Metastatic PC3 and LNCaP Human Prostate Cancer Cell Lines.Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.An analytical framework for optimizing variant discovery from personal genomes.Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.Microfluidic droplet enrichment for targeted 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.Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney diseaseA Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma.NGS-based approach to determine the presence of HPV and their sites of integration in human cancer genome.Whole-genome characterization in pedigreed non-human primates using genotyping-by-sequencing (GBS) and imputation.Analysis of optimal alignments unfolds aligners' bias in existing variant profiles.Evaluating alignment and variant-calling software for mutation identification in C. elegans by whole-genome sequencing.Evaluation of MC1R high-throughput nucleotide sequencing data generated by the 1000 Genomes Project.Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.Multidimensional Genome-wide Analyses Show Accurate FVIII Integration by ZFN in Primary Human CellsClinical exome sequencing in neurologic disease.Sequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms.GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation.Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.Detection of structural mosaicism from targeted and whole-genome sequencing data.Comparative analysis of de novo assemblers for variation discovery in personal genomes.Exome Sequencing: Current and Future Perspectives.Prevalence and architecture of de novo mutations in developmental disorders.Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.Critical points for an accurate human genome analysis.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.Cost analysis of whole genome sequencing in German clinical practice.
P2860
Q22000581-1F99C367-F967-4D03-A45C-9C20D7ACB546Q23005220-C407B8EB-171F-4728-90F6-D47D0219B459Q26827284-98057432-5A2F-499F-A7B2-842F091BFC98Q28077234-26AB3237-6346-46B2-B95A-537C1CA96263Q28547484-DCD79717-FC6A-4FD4-9893-867606684728Q28596922-5D3F3724-3564-4A33-9644-63880695214CQ30382864-5DC611CC-19F3-463A-AD6D-4D3958734CDBQ30847688-C6C3E22A-1A9A-479A-80D5-E6480609D49BQ30872081-FF31FF67-02D6-4C55-860E-083C5D7B7C30Q31008999-99D41AB3-2AED-44E7-8907-FF66881FA19FQ31135473-F1BF350B-E386-4ED0-B98E-E5CE080F218DQ33678448-A880D974-2AD6-4D6F-8E46-CB03B9A1E50AQ33807632-4594781C-FC67-4023-92CB-ABFDCA0F4FAFQ34866575-CDE84FF9-B072-4776-9E2F-5154CA98A8FCQ35153418-DD95B484-F75C-4982-A44A-210A09E67E94Q35567101-C48F62B5-60C5-4133-9CCD-5C1E09CFE323Q35885869-E5E6625F-105A-4D30-BF82-85779E92F560Q35962525-E8096104-8697-4118-9F2F-1C16F2C39B6BQ36013634-E162ACDD-BCEE-469C-A0B0-8CBC1535535AQ36054858-C3073784-7908-4844-83A7-E2EEE3CA9461Q36062064-E9B00ED6-600D-42FD-82B5-23CF875561A5Q36086852-AC10F300-9AB6-4C43-BA82-03262514343DQ36112251-1AAE947D-8645-476A-8834-A1FFDBCAA4F6Q36170269-F3AF0AEF-5FFC-4206-88B7-E349763F1F88Q36319863-35A10EEC-897A-480D-AB08-3734A9AE5056Q36367163-BC219D7B-8949-4679-9841-0A5B6946C133Q36473412-0BB4207B-776D-4001-B82D-78C1DDB06A6FQ36675323-642ED906-B463-46F8-95EB-4A148AD0B746Q36789878-F05C16CA-5A95-4EE2-8554-33B725C41B95Q36959108-78173BBB-3EFA-4E90-A002-34F5EF8F1D5EQ38415903-D0DB353A-B69D-4B19-B807-D6DE00334F4EQ38495799-85FFEC7F-1D77-47AB-A666-690087889491Q38601700-5E3CEEB8-36D3-4BD9-84E9-B576D11CCCD4Q38838300-CF0C1DE3-4769-4E20-9AD7-A1449F270FF9Q38988654-33009B43-3B22-4BEA-8F5F-D71DEFFCD519Q38991782-0FD042CA-68EC-442A-A62E-3FE0D749C603Q39268078-1B0E3DF6-6160-4E45-88A7-BA7E6DEBC3FBQ39283243-4993915A-29B0-47E0-AC60-17DAC37E1C8BQ39438083-383DA1D6-901B-4ED0-A374-68C6480D85FEQ39630048-BD986EA8-7B1C-40DB-AFA4-15322AC6BD81
P2860
Variant detection sensitivity and biases in whole genome and exome sequencing.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Variant detection sensitivity and biases in whole genome and exome sequencing.
@ast
Variant detection sensitivity and biases in whole genome and exome sequencing.
@en
type
label
Variant detection sensitivity and biases in whole genome and exome sequencing.
@ast
Variant detection sensitivity and biases in whole genome and exome sequencing.
@en
prefLabel
Variant detection sensitivity and biases in whole genome and exome sequencing.
@ast
Variant detection sensitivity and biases in whole genome and exome sequencing.
@en
P2860
P356
P1433
P1476
Variant detection sensitivity and biases in whole genome and exome sequencing.
@en
P2093
Alison M Meynert
Morad Ansari
P2860
P2888
P356
10.1186/1471-2105-15-247
P577
2014-07-19T00:00:00Z
P5875
P6179
1010245925