VariantDB: a flexible annotation and filtering portal for next generation sequencing data.
about
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromePedigree based DNA sequencing pipeline for germline genomes of cancer familiesCandidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samplesFamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease StudiesLoss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.MDM2 SNP309 and SNP285 Act as Negative Prognostic Markers for Non-small Cell Lung Cancer Adenocarcinoma Patients.Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdbDominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.Deep sequencing of the TP53 gene reveals a potential risk allele for non-small cell lung cancer and supports the negative prognostic value of TP53 variants.Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.Settling the score: variant prioritization and Mendelian disease.Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm GenesCell-Free DNA From Metastatic Pancreatic Neuroendocrine Tumor Patients Contains Tumor-Specific Mutations and Copy Number Variations
P2860
Q28266515-F5FC4AA2-B748-408A-BDA3-C98A9665DE3EQ28386134-6E5A2CFF-96CE-425F-9F71-F0709C1A6AADQ33792221-2A5FB83E-F5C6-4711-A1A6-69B2BC2A4A8DQ35602221-54BE968C-C87D-4E0F-9217-FB4BE609705DQ36043750-C756003C-4779-4C2F-A0A0-324CD7CD8F68Q37551632-4E8F3950-EE31-41D3-8437-78AB9029105FQ38619011-AEC7A469-F957-4C2E-8BCD-5EA01D4DEB5DQ39783575-64C273B5-AA27-4002-A71C-FAA427D33F0BQ41921860-5C3C6AA6-F2B1-487F-B0D1-F01B1D58D311Q48285481-DDF578B2-FE9C-42F7-83B9-74DB21581FBEQ51121284-8D8C7F45-EFED-450B-92CC-3333DD19C08FQ51409148-A751AC89-DD7B-454F-B4BD-90E795CFFEB9Q52544730-AFAC375B-0708-4169-BA6C-F81944B26988Q55738656-19765A62-0612-4987-A0F6-5335D702EAC0Q59137752-19448DA1-C4C7-438C-A8B5-9D53261F7E84
P2860
VariantDB: a flexible annotation and filtering portal for next generation sequencing data.
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին 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
VariantDB: a flexible annotati ...... xt generation sequencing data.
@ast
VariantDB: a flexible annotati ...... xt generation sequencing data.
@en
type
label
VariantDB: a flexible annotati ...... xt generation sequencing data.
@ast
VariantDB: a flexible annotati ...... xt generation sequencing data.
@en
prefLabel
VariantDB: a flexible annotati ...... xt generation sequencing data.
@ast
VariantDB: a flexible annotati ...... xt generation sequencing data.
@en
P2860
P50
P1433
P1476
VariantDB: a flexible annotati ...... xt generation sequencing data.
@en
P2093
Lut Van Laer
P2860
P2888
P356
10.1186/S13073-014-0074-6
P577
2014-10-02T00:00:00Z
P5875
P6179
1025404608