Beyond sequencing: re-visiting annotations for PJL as a test case.

Waqasuddin KhanAisha GhaniMuhammad Bilal AzmiSafina Abdul Razzak

Published in: BMC research notes (2019)

We characterized only SNVs and InDels types of genetic variations, in total ~ 1.4 million variants. Besides this, we also annotated the genetic variants with multiple annotations tools, ANNOVAR and SnpEff and compared the differential results. Our population-specific catalogue will enhance future studies on the functional impact at protein level.

Keyphrases

copy number
single cell
genome wide
current status
case control
protein protein
amino acid
binding protein
dna methylation
small molecule