The package huGSVcalleR includes over 35 high-level R and/or C++ functions combined into single pipeline aimed at identification and annotation of SNVs in sequencing data. The calling of variants can be done using six different approaches. The main feature of the annotation module of package is the linking of detected SNVs to splicing machinery.

Using Mendelian Randomization to decipher the prodrome of Amyotrophic Lateral Sclerosis and Parkinson's Disease