Variant detection sensitivity and biases in whole genome and exome sequencing. - Wikidata - awgldk - TriplyDB

Variant detection sensitivity and biases in whole genome and exome sequencing.

Variant detection sensitivity and biases in whole genome and exome sequencing.

http://www.wikidata.org/entity/Q35209205

about

Achieving high-sensitivity for clinical applications using augmented exome sequencing Medical implications of technical accuracy in genome sequencing Developments in our understanding of the genetic basis of birth defects The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery The Genetic Structure of Marijuana and Hemp Explorations to improve the completeness of exome sequencing Enhanced 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 data Novel 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 disease A 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 Cells Clinical 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-9C20D7ACB546 Q23005220-C407B8EB-171F-4728-90F6-D47D0219B459 Q26827284-98057432-5A2F-499F-A7B2-842F091BFC98 Q28077234-26AB3237-6346-46B2-B95A-537C1CA96263 Q28547484-DCD79717-FC6A-4FD4-9893-867606684728 Q28596922-5D3F3724-3564-4A33-9644-63880695214C Q30382864-5DC611CC-19F3-463A-AD6D-4D3958734CDB Q30847688-C6C3E22A-1A9A-479A-80D5-E6480609D49B Q30872081-FF31FF67-02D6-4C55-860E-083C5D7B7C30 Q31008999-99D41AB3-2AED-44E7-8907-FF66881FA19F Q31135473-F1BF350B-E386-4ED0-B98E-E5CE080F218D Q33678448-A880D974-2AD6-4D6F-8E46-CB03B9A1E50A Q33807632-4594781C-FC67-4023-92CB-ABFDCA0F4FAF Q34866575-CDE84FF9-B072-4776-9E2F-5154CA98A8FC Q35153418-DD95B484-F75C-4982-A44A-210A09E67E94 Q35567101-C48F62B5-60C5-4133-9CCD-5C1E09CFE323 Q35885869-E5E6625F-105A-4D30-BF82-85779E92F560 Q35962525-E8096104-8697-4118-9F2F-1C16F2C39B6B Q36013634-E162ACDD-BCEE-469C-A0B0-8CBC1535535A Q36054858-C3073784-7908-4844-83A7-E2EEE3CA9461 Q36062064-E9B00ED6-600D-42FD-82B5-23CF875561A5 Q36086852-AC10F300-9AB6-4C43-BA82-03262514343D Q36112251-1AAE947D-8645-476A-8834-A1FFDBCAA4F6 Q36170269-F3AF0AEF-5FFC-4206-88B7-E349763F1F88 Q36319863-35A10EEC-897A-480D-AB08-3734A9AE5056 Q36367163-BC219D7B-8949-4679-9841-0A5B6946C133 Q36473412-0BB4207B-776D-4001-B82D-78C1DDB06A6F Q36675323-642ED906-B463-46F8-95EB-4A148AD0B746 Q36789878-F05C16CA-5A95-4EE2-8554-33B725C41B95 Q36959108-78173BBB-3EFA-4E90-A002-34F5EF8F1D5E Q38415903-D0DB353A-B69D-4B19-B807-D6DE00334F4E Q38495799-85FFEC7F-1D77-47AB-A666-690087889491 Q38601700-5E3CEEB8-36D3-4BD9-84E9-B576D11CCCD4 Q38838300-CF0C1DE3-4769-4E20-9AD7-A1449F270FF9 Q38988654-33009B43-3B22-4BEA-8F5F-D71DEFFCD519 Q38991782-0FD042CA-68EC-442A-A62E-3FE0D749C603 Q39268078-1B0E3DF6-6160-4E45-88A7-BA7E6DEBC3FB Q39283243-4993915A-29B0-47E0-AC60-17DAC37E1C8B Q39438083-383DA1D6-901B-4ED0-A374-68C6480D85FE Q39630048-BD986EA8-7B1C-40DB-AFA4-15322AC6BD81

P2860

Variant detection sensitivity and biases in whole genome and exome sequencing.

http://www.wikidata.org/entity/Q35209205

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

P1433

Q35209205-29166491-71E9-4A62-98F8-F9CD32EAD7B5

P1476

Q35209205-90593F24-E0D5-497D-A20E-FDBF8D7C01E4

P2093

Q35209205-6B2586FC-1B32-4805-BD5D-02FC83138F1D

Q35209205-7D06175A-08A7-4542-9B85-A34FB4D3EBA9

P2860

Q35209205-01213F91-58C1-4DC7-8914-84B6ACE87187

Q35209205-2A1E1B00-7C8D-4F3B-A281-266B93BD159A

Q35209205-43647F19-C73E-4684-B207-3AF667A34872

Q35209205-5692BC92-A76C-47A1-8004-60584F7B1007

Q35209205-6D51B8D1-9828-4AAD-93F0-183B3F5862C5

Q35209205-6FFA597C-5C14-4420-8EE1-B5B75CE69F33

Q35209205-703B61E7-F214-4991-ACE1-80E66A99D015

Q35209205-74D91A4D-FE80-4276-951A-3828FDDD6160

Q35209205-79744690-621A-4246-BCD5-FB120801DBB3

Q35209205-A0AA5233-DCB3-4474-AB3C-A104AA1C1028

P2888

Q35209205-076AAE7E-C619-4E15-B44C-35B3A6A3726D

P304

Q35209205-A5D72D4E-10E7-4955-AA64-C9EBC12C97B3

P31

Q35209205-30059F27-45E3-45EF-8F35-EA7585755D73

P356

Q35209205-DA22E450-F936-4727-AFD3-A68B82E28F9D

P478

Q35209205-398C79F3-5CFB-4B71-A5F8-51AAB850B059

P50

Q35209205-56EFA4A7-ECAE-4779-8548-747780D3D7CB

Q35209205-7335FA90-6226-4A41-A5F6-CC571F7289FE

P577

Q35209205-DC0DD652-427F-436F-ABB6-124BB65F3170

P5875

Q35209205-6800A397-9849-40A9-A830-366717FABEBE

P6179

Q35209205-736A2754-60D7-4BC9-BAAA-ECA9E5926090

P698

Q35209205-7DAB92AB-9BA7-4B7B-B8F0-056B9FE0A2CF

P921

Q35209205-7D740126-228D-4288-8106-2F0169936713

P932

Q35209205-B474C254-8B3A-4C83-993A-6CE0F4C31DBD

P356

1471-2105-15-247

P1433

BMC Bioinformatics

P1476

Variant detection sensitivity and biases in whole genome and exome sequencing.

@en

P2093

Alison M Meynert

http://www.w3.org/2001/XMLSchema#string

Morad Ansari

http://www.w3.org/2001/XMLSchema#string

P2860

Accurate and comprehensive sequencing of personal genomes

A map of human genome variation from population-scale sequencing

Accurate whole human genome sequencing using reversible terminator chemistry

Fast and accurate short read alignment with Burrows-Wheeler transform

A large genome center's improvements to the Illumina sequencing system.

The human genome browser at UCSC

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

Integrating common and rare genetic variation in diverse human populations

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

P2888

1471-2105-15-247

P304

247

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1186/1471-2105-15-247

http://www.w3.org/2001/XMLSchema#string

P478

15

http://www.w3.org/2001/XMLSchema#string

P50

Martin S. Taylor

David R. FitzPatrick

P577

2014-07-19T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

264053300

http://www.w3.org/2001/XMLSchema#string

P6179

1010245925

http://www.w3.org/2001/XMLSchema#string

P698

25038816

http://www.w3.org/2001/XMLSchema#string

P921

P932

4122774

http://www.w3.org/2001/XMLSchema#string