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Daneshpajouh/README.md

Amir Daneshpajouh

Computing Science PhD candidate at Simon Fraser University. My research is on how machine learning models in genomics are tested and evaluated. Most of my pipeline work is in Snakemake on Slurm clusters, and I also write Nextflow. I teach programming and data structures at the University of the Fraser Valley as a sessional instructor.

The first six repositories are public versions of parts of my PhD work, rebuilt on public data (ClinVar, GIAB, gnomAD, MaveDB), so their history starts in 2026.

Repository What it does
callbench Snakemake workflow that calls germline SNVs and indels on GIAB samples with bcftools and FreeBayes and scores each caller against the GIAB v4.2.1 truth set, by variant type and genome stratum. Runs on a laptop, in containers or on Slurm.
clinvar-delta Nextflow DSL2 pipeline: ClinVar and gnomAD annotation for a gene panel, and a variant-by-variant audit of what changed between two ClinVar releases. Tested with nf-test.
clinvar-history ClinVar releases, gnomAD frequencies and MaveDB scores in one SQL schema on DuckDB and PostgreSQL, with validated loads and tested queries.
pipeprof Python package that measures memory, CPU and time of pipeline jobs before, during and after they run on Slurm, and turns the measurements into resource requests for Slurm, Nextflow and Snakemake.
mavecal How well six multiplexed assays of variant effect separate ClinVar pathogenic from benign missense variants, and what evidence strength that supports under OddsPath. The analysis plan was committed before the first run in the repository; later changes are listed as amendments.
nf-retrofit Adds tests, known-answer data and run logging to an existing Nextflow pipeline without editing the pipeline, shown on two published pipelines.

Earlier work:

Repository What it does
ChromeCRISPR CRISPR/Cas9 on-target activity model (BMC Bioinformatics, accepted September 2026)
crispr-foreclosure-benchmark Off-target candidates that reference-based nomination misses, across 459 assembled human haplotypes

Pinned Loading

  1. ChromeCRISPR ChromeCRISPR Public

    Hybrid Machine Learning Framework for CRISPR/Cas9 On-Target Activity Prediction

    Python

  2. sfu-bigdata/orx-surgical sfu-bigdata/orx-surgical Public

    Predictive Modeling based on Medical Data; a Health Compass project with ORX Surgical

    Jupyter Notebook

  3. optimal-ph optimal-ph Public

    Forked from meganhfowler/optimal-ph

    Applying machine learning for the Optimal-pH challenge from Copenhagen Bioinformatics Hackathon: 2021 Protein Edition

    Python

  4. callbench callbench Public

    Snakemake workflow that calls germline small variants with bcftools and FreeBayes and benchmarks them against GIAB HG002 with RTG vcfeval, by difficult-region stratum.

    Python

  5. clinvar-history clinvar-history Public

    Versioned SQL database of ClinVar releases, gnomAD v4.1 frequencies and MaveDB scores, on DuckDB or PostgreSQL from the same migrations and queries.

    Python

  6. nf-retrofit nf-retrofit Public

    Adds tests, profiles, known-answer data and run logging to an existing Nextflow pipeline from outside, without editing it.

    Python