Skip to content
View pipelinepilot1999's full-sized avatar

Block or report pipelinepilot1999

Block user

Prevent this user from interacting with your repositories and sending you notifications. Learn more about blocking users.

You must be logged in to block users.

Content in all repositories owned by your account will be closed.
Maximum 250 characters. Please don’t include any personal information such as legal names or email addresses. Markdown is supported. This note will only be visible to you.
Report abuse

Contact GitHub support about this user’s behavior. Learn more about reporting abuse.

Report abuse
pipelinepilot1999/README.md

Sathvik Sai Appagana

Bioinformatics Analyst / Computational Biologist · MS Bioinformatics

Open to Bioinformatics Analyst, Computational Biologist, and Bioinformatics Scientist roles — especially at academic cancer centers.

📧 sathvikappagana@gmail.com · LinkedIn


I build reproducible, defensible bioinformatics pipelines — each validated against known biology as a positive control, honest about where methods fail instead of smoothing it over, and treating a well-measured null result as a real finding.

Breast cancer, at three resolutions

My core work is one connected story, deliberately built so each project answers what the previous one couldn't:

  • Bulk RNA-seq found the ER+/TNBC subtype signature by averaging across all cells.
  • Single-cell localized that signature to the malignant epithelial compartment and proved malignancy cell-by-cell via copy-number inference.
  • Spatial deconvolution put the compartments back into tissue, showing the tumor–immune architecture itself differs by subtype — TNBC infiltrated, ER+ excluded.

Core arc

  • rnaseq-brca-pipeline — Bulk RNA-seq of BRCA subtypes (STAR → featureCounts → DESeq2 → clusterProfiler); recovers canonical ER+/TNBC signatures in the correct direction.
  • scrna-tme-pipeline — scRNA-seq of the tumor microenvironment (31,265 cells; Scanpy/Harmony); inferCNV confirms malignancy cell-by-cell.
  • spatial-tme-pipeline — Reference-based spatial deconvolution (RCTD/SPOTlight) across 6 Visium sections, validated against pathologist annotation.

Supporting work

  • multiomics-ml-brca — Permutation-validated multi-omics ML for relapse (RNA-seq + DNA methylation, TCGA-BRCA); a 1,000× leak-free noise floor shows methylation adds no gain beyond expression — the measurement is the deliverable, not the direction.
  • spatial-trimm-project — Spatial cell-motif discovery (TrimNN) with a permutation null correcting abundance bias, plus fixes for cell-type confounding and pseudoreplication.
  • atac-seq-pipeline — Differential chromatin accessibility (bowtie2 → MACS2 → DESeq2 → HOMER); independently recovers the FOXA1 pioneer factor as a positive control.
  • gatk-somatic-variant-calling — GATK4 Best-Practices tumor–normal WES (hg38; bwa-mem2 → Mutect2 → Funcotator → maftools) on a real open-access patient case.

Every repo ships a pinned conda environment, a data-download script, and a README that regenerates the figures — clone and run.

Tools

Languages — Python · R · Bash Single-cell & spatial — Scanpy · Harmony · inferCNV · RCTD · SPOTlight · squidpy Bulk & epigenome — STAR · featureCounts · DESeq2 · bowtie2 · MACS2 · HOMER · clusterProfiler Variants — GATK4 · bwa-mem2 · Mutect2 · maftools ML & statistics — scikit-learn · permutation testing · elastic-net / random forest · nested cross-validation Pipelines & infra — Snakemake · SLURM · AWS EC2

Popular repositories Loading

  1. atac-seq-pipeline atac-seq-pipeline Public

    Modular Snakemake workflow (bowtie2 → MACS2 → DESeq2 → HOMER) profiling open chromatin in cancer vs. normal human cells (MCF7, hg38). Unbiased motif analysis independently recovered FOXA1 which is …

    HTML

  2. rnaseq-brca-pipeline rnaseq-brca-pipeline Public

    Reproducible Snakemake pipeline (STAR → featureCounts → DESeq2 → clusterProfiler) comparing two clinically distinct breast cancer subtypes on human tumor RNA-seq (GSE58135). Recovered the canonical…

    HTML

  3. scrna-tme-pipeline scrna-tme-pipeline Public

    Scanpy analysis of 31,265 cells from human primary breast tumors (ER+ and TNBC). QC → Harmony integration → clustering → marker annotation (7 cell types) → inferCNV. Localizes the subtype signature…

    Jupyter Notebook

  4. gatk-somatic-variant-calling gatk-somatic-variant-calling Public

    GATK4 Best Practices pipeline on real patient whole-exome tumor-normal data (open-access TCRB, hg38). bwa-mem2 → BQSR → HaplotypeCaller (germline) + Mutect2 (somatic) → Funcotator → maftools. Disti…

    Shell

  5. multiomics-ml-brca multiomics-ml-brca Public

    Multi-omics ML for TCGA-BRCA relapse: a permutation-validated late-fusion comparison showing methylation adds no signal beyond expression

    Python

  6. pipelinepilot1999 pipelinepilot1999 Public