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Nupur Garg - Rare Disease Diagnostics
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Nupur Garg

Rare Disease Diagnostics
In-Depth Genomics • Bellevue • United States of America

Skills and expertise

Fields of interest
  • WGS analysis
  • WES analysis
  • De novo sequencing analysis
Languages
  • English

Fields of interest

WGS analysis
Allows users to measure biodiversity. Mobr is an R package proposing a…
Investigates mutational signatures in cancer samples. MuSiCa includes options…
Detects variant somatic and germline origin in cancer specimens. SGZ is a…
WES analysis
Detects structural variants (SVs) and insertion and deletion genome-wide…
Trains a decision tree from single nucleotide polymorphism database (dbSNP) and…
Allows users to perform de novo discovery of k-mer set memories (KSMs). KMAC is…
De novo sequencing analysis
Identifies insertions and deletions (indels) from DNA-seq or RNA-seq data.…
Examines cis-regulatory modules (CRM) and cis-regulatory elements (CRE). EDCC…
Performs genome-wide prioritizations. Scuba prioritizes from candidate genes…