MTHFR & COMT Mutation Analysis
Budget: $250 – $750 USD
I will supply a single CSV file that already contains raw genotype data. I’m looking for a concise analysis that pinpoints any clinically relevant variants in the MTHFR and COMT genes and briefly interprets their potential impact.
Scope (kept intentionally lean):
• Parse the CSV, isolate the MTHFR and COMT loci, and identify common mutations such as C677T, A1298C, and Val158Met (rs4680).
• Confirm zygosity for each detected variant.
• Deliver a short, plain-language summary (one page or less) highlighting which mutations are present, the genotype (e.g., homozygous, heterozygous), and a short note on potential metabolic or methylation implications.
A simple script in Python, R, or any standard bioinformatics pipeline is fine as long as the output is clear and reproducible. Please return:
1. The brief written report (PDF or DOCX).
2. The annotated variant list (CSV or TSV).
3. Your script or exact commands so I can replicate the results if needed.
No wet-lab work is required—everything is based solely on the genotype data I provide.
Scope (kept intentionally lean):
• Parse the CSV, isolate the MTHFR and COMT loci, and identify common mutations such as C677T, A1298C, and Val158Met (rs4680).
• Confirm zygosity for each detected variant.
• Deliver a short, plain-language summary (one page or less) highlighting which mutations are present, the genotype (e.g., homozygous, heterozygous), and a short note on potential metabolic or methylation implications.
A simple script in Python, R, or any standard bioinformatics pipeline is fine as long as the output is clear and reproducible. Please return:
1. The brief written report (PDF or DOCX).
2. The annotated variant list (CSV or TSV).
3. Your script or exact commands so I can replicate the results if needed.
No wet-lab work is required—everything is based solely on the genotype data I provide.