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

Waqasuddin Khan, Aisha Ghani, Muhammad Bilal Azmi, Safina Abdul Razzak

Research output: Contribution to journalArticlepeer-review


Objectives: Current developments in sequencing techniques have enabled rapid and high-throughput generation of sequence data. However, there is a growing gap between the generation of raw sequencing data and the extraction of meaningful biological information. Variant annotation is a crucial step in the analysis of genome sequencing data. Incorrect or incomplete annotations can cause researchers to dilute interesting variants in a pool of false positives. We require consistent, accurate and reliable annotation of variants for making diagnostic and treatment decisions. Current annotation depends on the set of transcripts, and software used can be managed, with sufficient care, in the research context. Careful thought needs to be given to the choice of transcript sets and software packages for variant annotation in sequencing studies. In this project, the main objective is to analyze the genetic variants observed in Pakistani population data within the 1000 genomes project (1KGP). Results: 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.

Original languageEnglish
Article number467
JournalBMC Research Notes
Issue number1
Publication statusPublished - 31 Jul 2019
Externally publishedYes


  • InDels
  • PJL
  • Population-genetics
  • SNVs
  • Variants


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