Table 1 An example of a resource and its description
From: Semantic biomedical resource discovery: a Natural Language Processing framework
Name | Summary | Tags (Principal bioinformatics methods) | |
|---|---|---|---|
GeneTalk | GeneTalk, a web-based platform, that can filter, reduce and prioritize human sequence variants from NGS data and assist in the time consuming and costly interpretation of personal variants in clinical context. It serves as an expert exchange platform for clinicians and scientists who are searching for information about specific sequence variants and connects them to share and exchange expertise on variants that are potentially disease-relevant. | Genetic variation annotation, Sequence variation analysis, Variant Calling, Structural variation discovery, Filtering, Annotation, Database, Exome analysis, Sequence analysis, Variant Classification, Viewer | |
Link | Input (format) | Output (format) | Category |
VCF | VCF,XLS,XLSX | Sequence Analysis | |