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| software [2021/12/20 15:07] – created - external edit 127.0.0.1 | software [2022/10/15 23:02] – ivan |
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| ===Tools for Assessment of Variants=== | ===Tools for Assessment of Variants=== |
| * [[http://genetics.bwh.harvard.edu/pph2|PolyPhen-2]] is a tool for predicting the effect of an amino acid substitution on protein structure and function, based on comparative genomics and experimentally determined protein structures. It is available as a web service, and can also be downloaded as a standalone application. | * [[http://genetics.bwh.harvard.edu/pph2/|PolyPhen-2]] is a tool for predicting the effect of an amino acid substitution on protein structure and function, based on comparative genomics and experimentally determined protein structures. It is available as a web service, and can also be downloaded as a standalone application. |
| * [[http://genetics.bwh.harvard.edu/snptrack|SNPtrack]] is a simple interface for mutation mapping and identifying causal mutations from whole-genome sequencing studies. It is available as a web service. | * [[http://genetics.bwh.harvard.edu/snptrack|SNPtrack]] is a simple interface for mutation mapping and identifying causal mutations from whole-genome sequencing studies. It is available as a web service. |
| * [[http://genetics.bwh.harvard.edu/scone/|SCONE]] is a tool for predicting the effect of noncoding variation on regulatory sequences based on evolutionary conservation. It is available for download as a standalone application. | * [[http://genetics.bwh.harvard.edu/scone/|SCONE]] is a tool for predicting the effect of noncoding variation on regulatory sequences based on evolutionary conservation. It is available for download as a standalone application. |