<html><head><meta http-equiv="Content-Type" content="text/html; charset=us-ascii"></head><body style="word-wrap: break-word; -webkit-nbsp-mode: space; line-break: after-white-space;" class=""><div><blockquote type="cite" class=""><div style="word-wrap: break-word; -webkit-nbsp-mode: space; line-break: after-white-space;" class=""><div class=""><blockquote type="cite" class=""><br class="Apple-interchange-newline"><div style="margin-top: 0px; margin-right: 0px; margin-bottom: 0px; margin-left: 0px;" class=""><span style="font-family: -webkit-system-font, "Helvetica Neue", Helvetica, sans-serif;" class=""><b class="">From: </b></span><span style="font-family: -webkit-system-font, Helvetica Neue, Helvetica, sans-serif;" class="">Jun Dai <<a href="mailto:jun.d@ayassbioscience.com" class="">jun.d@ayassbioscience.com</a>><br class=""></span></div><div style="margin-top: 0px; margin-right: 0px; margin-bottom: 0px; margin-left: 0px;" class=""><span style="font-family: -webkit-system-font, "Helvetica Neue", Helvetica, sans-serif;" class=""><b class="">Subject: </b></span><span style="font-family: -webkit-system-font, Helvetica Neue, Helvetica, sans-serif;" class=""><b class="">Re: [ensembl-dev] Clinical Applications of SIFT/PolyPhen score(s)</b><br class=""></span></div><div style="margin-top: 0px; margin-right: 0px; margin-bottom: 0px; margin-left: 0px;" class=""><span style="font-family: -webkit-system-font, "Helvetica Neue", Helvetica, sans-serif;" class=""><b class="">Date: </b></span><span style="font-family: -webkit-system-font, Helvetica Neue, Helvetica, sans-serif;" class="">4 May 2022 at 20:37:56 BST<br class=""></span></div><div style="margin-top: 0px; margin-right: 0px; margin-bottom: 0px; margin-left: 0px;" class=""><span style="font-family: -webkit-system-font, "Helvetica Neue", Helvetica, sans-serif;" class=""><b class="">To: </b></span><span style="font-family: -webkit-system-font, Helvetica Neue, Helvetica, sans-serif;" class=""><a href="mailto:dev@ensembl.org" class="">dev@ensembl.org</a><br class=""></span></div><div style="margin-top: 0px; margin-right: 0px; margin-bottom: 0px; margin-left: 0px;" class=""><span style="font-family: -webkit-system-font, "Helvetica Neue", Helvetica, sans-serif;" class=""><b class="">Reply-To: </b></span><span style="font-family: -webkit-system-font, Helvetica Neue, Helvetica, sans-serif;" class="">Ensembl developers list <<a href="mailto:dev@ensembl.org" class="">dev@ensembl.org</a>><br class=""></span></div><br class=""><div class=""><div dir="ltr" class="">Hi All,<div class=""><br class=""><div class="">Greetings! I am working on a cancer predicting system based on genetic testing results (for example, a few mutated genes detected, such as BRCA2 deletion, PTEN mutation, etc.). Specifically, I want to provide prognostic information regarding the detected genetic alterations. I noticed SIFT or PolyPhen among many others could provide information about each of the genetic alterations. Does anyone have any experience to predict the prognostics or something similar, for example, the correlation or causal relationship with invasion or metastasis . <br class=""><br class="">Thank you! <br clear="all" class=""><div class="">JD</div><div dir="ltr" class="gmail_signature" data-smartmail="gmail_signature"><div dir="ltr" class=""><div dir="ltr" style="color:rgb(136,136,136)" class=""><div dir="ltr" class=""><div class=""><div class=""></div></div></div></div></div></div></div></div></div>
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<div style="letter-spacing: normal; text-align: start; text-indent: 0px; text-transform: none; white-space: normal; word-spacing: 0px; -webkit-text-stroke-width: 0px; word-wrap: break-word; -webkit-nbsp-mode: space; line-break: after-white-space;" class=""><div style="letter-spacing: normal; text-align: start; text-indent: 0px; text-transform: none; white-space: normal; word-spacing: 0px; -webkit-text-stroke-width: 0px; word-wrap: break-word; -webkit-nbsp-mode: space; line-break: after-white-space;" class=""><div style="letter-spacing: normal; text-align: start; text-indent: 0px; text-transform: none; white-space: normal; word-spacing: 0px; -webkit-text-stroke-width: 0px; word-wrap: break-word; -webkit-nbsp-mode: space; line-break: after-white-space;" class=""><div class=""><br class=""></div></div></div></div></div></div></blockquote></div><br class=""><div class=""><br class=""></div><div class="">Hi Jun Dai,</div><div class=""><br class=""></div><div class="">Approaches that groups often take when assessing the potential correlation of missense variants are usually through some form of burden testing across a gene of interest in large numbers of samples where case / control status is known. There are quite a few papers out there on the topic. While PolyPhen and SIFT are good missense scoring tools, there are many newer scoring tools (most of which are usable through VEP plugins - <a href="https://www.ensembl.org/info/docs/tools/vep/script/vep_plugins.html" class="">https://www.ensembl.org/info/docs/tools/vep/script/vep_plugins.html</a>) which may be provide better results.</div><div class=""><br class=""></div><div class="">Cheers,</div><div class="">Jamie.</div></body></html>