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7 changes: 5 additions & 2 deletions README.md
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# ~~~ SalsaValentina ~~~
# SalsaValentina

<img src="https://github.com/collaborativebioinformatics/SVHack_Mendelian/blob/main/salsa2.png?raw=true">
<img src="https://github.com/collaborativebioinformatics/SVHack_Mendelian/blob/main/salsa.png?raw=true">

## Background
Mendelian disorders, aka monogenic diseases, are undiagnosed by exome sequencing in ~50-75% of cases [https://www.nature.com/articles/ncomms15824]. A sizable portion of mendelian diseases are caused by SVs, (including complex SVs), but the extent of this is unclear [Schuy et al. 2022]. In the absence of reliable databases for phenotypically relevant SVs - like gnomAD or clinvar for SNVs - the interpretation of variants is often challenging.
Expand Down Expand Up @@ -40,3 +40,6 @@ Sniffles multisample vs Sniffles singlesample + SURVIVOR
- Investigate more the reasons for different numbers (Sniffles multi vs SURVIVOR)

### Local Assemblies of SV candidates

##Programs and Tools Used
##Team