AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
about
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human diseaseFunctional annotation of putative regulatory elements at cancer susceptibility LociUnraveling genomic variation from next generation sequencing data.An NGS Workflow Blueprint for DNA Sequencing Data and Its Application in Individualized Molecular Oncology.Jannovar: a java library for exome annotation.Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance.A survey of tools for variant analysis of next-generation genome sequencing data.Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver.VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era.Var2GO: a web-based tool for gene variants selection.SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizuresTowards precision medicine: advances in computational approaches for the analysis of human variantsComputational approaches to identify functional genetic variants in cancer genomesMethodological aspects of whole-genome bisulfite sequencing analysis.Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson diseaseGenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases.Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.VAReporter: variant reporter for cancer research of massive parallel sequencing.
P2860
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P2860
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@ast
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@en
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@nl
type
label
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@ast
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@en
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@nl
prefLabel
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@ast
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@en
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@nl
P2093
P2860
P356
P1433
P1476
AnnTools: a comprehensive and versatile annotation toolkit for genomic variants.
@en
P2093
Guiqing Cai
Jayon Lihm
Seungtai Yoon
Vladimir Makarov
P2860
P304
P356
10.1093/BIOINFORMATICS/BTS032
P407
P577
2012-01-18T00:00:00Z