diff --git a/README.md b/README.md index 45a1d36..c96a0a3 100644 --- a/README.md +++ b/README.md @@ -1,6 +1,6 @@ -# ~~~ SalsaValentina ~~~ +# SalsaValentina - + ## 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. @@ -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