From 0c0bb2ce9a6dab954960894910de7660d92f4557 Mon Sep 17 00:00:00 2001
From: Rajarshi Mondal <88313261+Rajarshi0@users.noreply.github.com>
Date: Fri, 1 Sep 2023 00:06:09 +0530
Subject: [PATCH] Update README.md
---
README.md | 7 +++++--
1 file changed, 5 insertions(+), 2 deletions(-)
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