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VarAFT: a variant annotation and filtration system for human next generation sequencing data
- Source :
- Nucleic Acids Research, Nucleic Acids Research, Oxford University Press, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩
- Publication Year :
- 2018
- Publisher :
- Oxford University Press (OUP), 2018.
-
Abstract
- International audience; With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In
- Subjects :
- 0301 basic medicine
Sequence analysis
RNA Splicing
Inheritance Patterns
Datasets as Topic
Computational biology
[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
Biology
Genome
DNA sequencing
03 medical and health sciences
symbols.namesake
Annotation
0302 clinical medicine
Genetics
Humans
Gene
Genetic Association Studies
Whole genome sequencing
Internet
Genome, Human
Genetic Diseases, Inborn
Computational Biology
High-Throughput Nucleotide Sequencing
Molecular Sequence Annotation
Sequence Analysis, DNA
Gene Ontology
030104 developmental biology
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Mutation
Web Server Issue
Mendelian inheritance
symbols
Software
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 13624962 and 03051048
- Volume :
- 46
- Database :
- OpenAIRE
- Journal :
- Nucleic Acids Research
- Accession number :
- edsair.doi.dedup.....ca61cc8ee2647a3bf67d02938475dba7
- Full Text :
- https://doi.org/10.1093/nar/gky471