DTC support

Dragen pipeline Imputation pipeline Imputation benchmark Imputation RShiny app Ancestry pipeline

Customer support & bioinformatics pipeline development for Direct To Consumer (DTC) genetics companies such as Sano & Nebula Genomics.

For example, I developed and improved multiple bioinformatics pipelines based on user feedback including:

  • Dragen
    • Developed Nextflow pipeline for running Illumina’s Dragen pipeline including indexing, mapping, germline/somatic variant calling & copy number variant (CNV) analysis
  • Imputation
    • Benchmarked multiple imputation pipelines
    • Greatly improved Lifebit’s imputation pipeline by adding input validation & continuous integration testing. This resulted in a highly robust imputation pipeline used in production by direct to consumer genetics companies such as Nebula Genomics and Sano Genetics thousands of times to analyse their customers’ data.
    • Built imputation RShiny app
  • Ancestry
    • Developed Lifebit’s intial Ancestry pipeline
Bioinformatics Web Development Illumina DTC Lifebit Nextflow Docker R Python RShiny DNA Variant Calling SNPs analysis Imputation
Phil Palmer
Bioinformatician PhD Student

My research interests include bioinformatics, machine learning and viral genomics.