class: inverse, center, middle, title-slide background-image: url(pictures/featured.jpg) background-size: contain background-position: 50% 100% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">No Programming Required: Bioinformatics for the Busy Clinical Geneticist</font></code>
--- <iframe src="https://symphonious-sorbet-3843c8.netlify.app/" style="position:fixed; top:0; left:0; bottom:0; right:0; width:100%; height:100%; border:none; margin:0; padding:0; overflow:hidden; z-index:999999;"> Your browser doesn't support iframes </iframe> --- class: inverse, center, middle background-image: url(pictures/wes.jpg) background-size: contain background-position: 50% 50% background-size: 75% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">The question: Can you tell me more about this variant of unknown significance?</font></code> --- #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">From Phenotype to Genotype and Back</font></code> <iframe src="https://hpo.jax.org/app/browse/search?q=tango2&navFilter=all" style="position:fixed; top:93; left:0; bottom:0; right:0; width:100%; height:93%; border:none; margin:0; padding:0; overflow:hidden; z-index:999999;"> Your browser doesn't support iframes </iframe> --- #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">From Phenotype to Genotype and Back</font></code> <iframe src="https://amelie.stanford.edu/submit" style="position:fixed; top:93; left:0; bottom:0; right:0; width:100%; height:93%; border:none; margin:0; padding:0; overflow:hidden; z-index:999999;"> Your browser doesn't support iframes </iframe> --- #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Common or rare?</font></code> <iframe src="https://marrvel.org" style="position:fixed; top:93; left:0; bottom:0; right:0; width:100%; height:93%; border:none; margin:0; padding:0; overflow:hidden; z-index:999999;"> Your browser doesn't support iframes </iframe> --- #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Variant Impact/Type</font></code> <iframe src="https://wintervar.wglab.org/" style="position:fixed; top:93; left:0; bottom:0; right:0; width:100%; height:93%; border:none; margin:0; padding:0; overflow:hidden; z-index:999999;"> Your browser doesn't support iframes </iframe> --- class: inverse, center, middle background-image: url(pictures/topld_1.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In LD with Unsequenced Variants?</font></code> --- class: inverse, center, middle background-image: url(pictures/topld_2.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In LD with Unsequenced Variants?</font></code> --- class: inverse, center, middle background-image: url(pictures/topld_3.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In LD with Unsequenced Variants?</font></code> --- #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In-silico predictions: Splicing</font></code> <iframe src="https://spliceailookup.broadinstitute.org/#variant=chr22-20049074-C-T&hg=37&distance=50&mask=0&precomputed=0" style="position:fixed; top:93; left:0; bottom:0; right:0; width:100%; height:93%; border:none; margin:0; padding:0; overflow:hidden; z-index:999999;"> Your browser doesn't support iframes </iframe> --- class: inverse, center, middle background-image: url(pictures/synonymous.jpg) background-size: contain background-position: 50% 45% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In-silico predictions: Brief Sojourn #1</font></code> ###### <code><font color="black"; style="position:fixed; bottom:1%; left: 50%; transform: translateX(-50%)">Jiang Y, Neti SS, Sitarik I, Pradhan P, To P, Xia Y, Fried SD, Booker SJ, O'Brien EP. How synonymous mutations alter enzyme structure and function over long timescales. Nat Chem. 2022 Dec 5. doi: 10.1038/s41557-022-01091-z. Epub ahead of print. PMID: 36471044.</font></code> --- class: inverse, center, middle background-image: url(pictures/variant_tools.jpg) background-size: contain background-position: 50% 50% background-size: 75% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In-silico predictions: Brief Sojourn #2</font></code> --- class: inverse, center, middle background-image: url(pictures/dbnsfp_1.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In-silico predictions: Variant Effect</font></code> --- class: inverse, center, middle background-image: url(pictures/dbnsfp_2.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In-silico predictions: Variant Effect</font></code> --- class: inverse, center, middle background-image: url(pictures/dbnsfp_3.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In-silico predictions: Variant Effect</font></code> --- class: inverse, center, middle background-image: url(pictures/dbnsfp_4.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In-silico predictions: Variant Effect</font></code> --- class: inverse, center, middle background-image: url(pictures/dbnsfp_5.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">In-silico predictions: Variant Effect</font></code> ###### <code><font color="black"; style="position:fixed; bottom:20%; left: 50%; transform: translateX(-50%)">Reminder: A scaled CADD score of 20 means that a variant is amongst the top 1% of deleterious variants in the human genome. A scaled CADD score of 30 means that the variant is in the top 0.1% and so forth.</font></code> --- #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Residue/Domain? Hotspot?</font></code> <iframe src="https://www.uniprot.org/uniprotkb/Q6ICL3/entry" style="position:fixed; top:93; left:0; bottom:0; right:0; width:100%; height:93%; border:none; margin:0; padding:0; overflow:hidden; z-index:999999;"> Your browser doesn't support iframes </iframe> --- class: inverse, center, middle background-image: url(pictures/litsense_1.jpg) background-size: contain background-position: 50% 50% background-size: 90% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Variant effect functionally studied?</font></code> --- class: inverse, center, middle background-image: url(pictures/litsense_2.jpg) background-size: contain background-position: 50% 50% background-size: 90% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Variant effect functionally studied?</font></code> --- class: inverse, center, middle background-image: url(pictures/olida_1.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Interpretation Database</font></code> --- class: inverse, center, middle background-image: url(pictures/olida_3.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Interpretation Database</font></code> --- class: inverse, center, middle background-image: url(pictures/olida_2.jpg) background-size: contain background-position: 50% 50% background-size: 100% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Interpretation Database</font></code> --- class: inverse, center, middle background-image: url(pictures/decipher_1.jpg) background-size: contain background-position: 50% 50% background-size: 90% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Previously reported cases?</font></code> --- class: inverse, center, middle background-image: url(pictures/decipher_2.jpg) background-size: contain background-position: 50% 50% background-size: 90% #### <code><font color="black"; style="position:fixed; top:1%; left: 50%; transform: translateX(-50%)">Previously reported cases?</font></code>