Agent skill
bio-fragment-analysis
Analyzes cfDNA fragment size distributions and fragmentomics features using FinaleToolkit or Griffin. Extracts nucleosome positioning patterns, fragment ratios, and DELFI-style fragmentation profiles for cancer detection. Use when leveraging fragment patterns for tumor detection or tissue-of-origin analysis.
Install this agent skill to your Project
npx add-skill https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-fragment-analysis
SKILL.md
Version Compatibility
Reference examples tested with: numpy 1.26+, pandas 2.2+, pysam 0.22+
Before using code patterns, verify installed versions match. If versions differ:
- Python:
pip show <package>thenhelp(module.function)to check signatures
If code throws ImportError, AttributeError, or TypeError, introspect the installed package and adapt the example to match the actual API rather than retrying.
Fragment Analysis
"Analyze cfDNA fragment patterns for cancer detection" → Extract fragmentomics features (size distributions, nucleosome positioning, DELFI profiles) from cfDNA for tumor detection and tissue-of-origin analysis.
- Python:
FinaleToolkitorGriffinfor fragment feature extraction - Python:
pysamfor custom fragmentomics analysis
Analyze cfDNA fragmentomics for cancer detection and characterization.
Tool Selection
| Tool | Description | Use Case |
|---|---|---|
| FinaleToolkit | DELFI-style patterns, MIT license | General fragmentomics |
| Griffin | Nucleosome profiling | Tissue deconvolution |
Note: DELFI is a commercial company, NOT software. Use FinaleToolkit (MIT license) which replicates DELFI patterns and is 50x faster.
Fragment Size Metrics
import pysam
import numpy as np
import pandas as pd
def calculate_fragment_metrics(bam_path):
'''
Calculate cfDNA fragment metrics.
Key ratios for cancer detection:
- Short (100-150 bp) vs Long (151-220 bp)
- ctDNA tends to be shorter than normal cfDNA
'''
bam = pysam.AlignmentFile(bam_path, 'rb')
sizes = []
for read in bam.fetch():
if read.is_proper_pair and not read.is_secondary and read.template_length > 0:
sizes.append(read.template_length)
bam.close()
sizes = np.array(sizes)
# DELFI-style ratios
short = np.sum((sizes >= 100) & (sizes <= 150))
long = np.sum((sizes >= 151) & (sizes <= 220))
metrics = {
'total_fragments': len(sizes),
'median_size': np.median(sizes),
'mean_size': np.mean(sizes),
'short_fragments': short,
'long_fragments': long,
'short_long_ratio': short / long if long > 0 else np.nan,
# Mononucleosome peak
'mono_peak_fraction': np.sum((sizes >= 150) & (sizes <= 180)) / len(sizes)
}
return metrics
FinaleToolkit Analysis
import finaletoolkit as ft
import pandas as pd
def run_finaletoolkit(bam_path, output_prefix):
'''
Run FinaleToolkit for DELFI-style fragmentomics.
FinaleToolkit 0.7.1+ required.
'''
# Extract fragment sizes
fragments = ft.read_fragments(bam_path)
# Calculate genome-wide fragmentation profile
# 5Mb bins as in DELFI
profile = ft.calculate_fragmentation_profile(
fragments,
bin_size=5_000_000,
short_range=(100, 150),
long_range=(151, 220)
)
profile.to_csv(f'{output_prefix}_frag_profile.csv')
# Calculate coverage-corrected ratios
ratios = ft.calculate_short_long_ratios(
fragments,
bin_size=5_000_000,
gc_correct=True
)
return profile, ratios
Griffin Nucleosome Profiling
import subprocess
def run_griffin(bam_path, sites_bed, output_dir):
'''
Run Griffin for nucleosome positioning analysis.
Griffin 0.2.0+ required.
'''
# Griffin analyzes nucleosome accessibility around regulatory sites
subprocess.run([
'griffin',
'--bam', bam_path,
'--sites', sites_bed, # TSS, CTCF, etc.
'--output', output_dir,
'--window', '2000', # bp around site
'--fragment_length', '120-180'
], check=True)
Genome-Wide Fragmentation Profile
Goal: Generate a genome-wide map of short-to-long fragment ratios across fixed-size bins, replicating the DELFI approach for cancer detection from cfDNA fragmentomics.
Approach: Iterate over proper-pair fragments in each genomic bin, classify each as short (100-150 bp) or long (151-220 bp), and compute the short/long ratio per bin as the fragmentation feature vector.
import pysam
import numpy as np
def calculate_binned_profile(bam_path, bin_size=5_000_000, chromosomes=None):
'''
Calculate fragment profiles in genomic bins.
Similar to DELFI approach.
'''
if chromosomes is None:
chromosomes = [f'chr{i}' for i in range(1, 23)]
bam = pysam.AlignmentFile(bam_path, 'rb')
profiles = {}
for chrom in chromosomes:
try:
chrom_len = bam.get_reference_length(chrom)
except Exception:
continue
n_bins = (chrom_len // bin_size) + 1
short_counts = np.zeros(n_bins)
long_counts = np.zeros(n_bins)
for read in bam.fetch(chrom):
if not read.is_proper_pair or read.is_secondary:
continue
if read.template_length <= 0:
continue
bin_idx = read.reference_start // bin_size
if bin_idx >= n_bins:
continue
size = read.template_length
if 100 <= size <= 150:
short_counts[bin_idx] += 1
elif 151 <= size <= 220:
long_counts[bin_idx] += 1
# Calculate ratio per bin
with np.errstate(divide='ignore', invalid='ignore'):
ratios = short_counts / long_counts
ratios[~np.isfinite(ratios)] = np.nan
profiles[chrom] = {
'short': short_counts,
'long': long_counts,
'ratio': ratios
}
bam.close()
return profiles
Interpretation
| Pattern | Interpretation |
|---|---|
| Higher short/long ratio | Possible tumor signal |
| Altered nucleosome positioning | Epigenetic changes |
| Tissue-specific patterns | Tissue of origin |
| Modal peak shift | cfDNA quality issue or biology |
Related Skills
- cfdna-preprocessing - Preprocess before fragment analysis
- tumor-fraction-estimation - Complement with CNV-based estimation
- methylation-based-detection - Alternative detection approach
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