Bioinformatics
Posts tagged “Bioinformatics”.
- I Sequenced My Family. We Still Don't Have an Answer.
I sequenced two families and built a rare-disease analysis pipeline. The work produced lessons about evidence and uncertainty, but no diagnosis.
- The Pipeline Behind Sequencing My Family
The engineering behind a family exome analysis, from scan assembly and FASTQ/BAM/VCF processing to read validation and reference-population gaps.