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2024 · bioinformatics

NGS Secondary Analysis Pipeline

A pipeline for the UCLA Pellegrini Lab that turns canine whole-genome sequencing data into labeled VCFs, tuned for large indels.

context

UCLA Pellegrini Lab

stack

Bash, Linux, BWA, GATK, Samtools, snpEff, Picard

NGS Secondary Analysis Pipeline screenshot

what i built

  • Built an NGS secondary-analysis pipeline in Linux to process canine whole-genome sequencing data into labeled VCF outputs.
  • Tuned parameters with Prof. Pellegrini to improve indel detection sensitivity, reaching a 95% large-indel identification rate.
  • Adapted the script to the lab’s needs as part of broader research that synthesized findings from 400+ WGS studies to prioritize disease-associated genes.