A team from Cold Spring Harbor Laboratory has released an algorithm, called Scalpel, for finding insertions and deletions in next generation sequencing data sets. Scalpel, which is ope...
...ygous SNPs from Variant Call Format (VCF) file and for filtering based on heterozygous SNPs, multi-nucleotide polymorphisms (MNPs) and insertion-deletions (InDels). Multi-omic integrat...
...single nucleotide variants, the complex ones involving insertions and deletions are usually missed. With mult...chenne’s Muscular Dystrophy where there are clinically relevant deletions reported.
In this presentati...
...ng and very expensive. Multi-gene panel based on NGS (next-generation sequencing) can allow us to detect all types of mutations, including large deletions/duplications, thus allowing u...