bio-atac-seq-allele-specific-accessibility
Installation
SKILL.md
Version Compatibility
Reference examples tested with: WASP 0.3.4+, GATK 4.4+, RASQUAL 1.1+, samtools 1.19+, bcftools 1.19+, vcftools 0.1.16+, plink 2.00+, MatrixEQTL 2.3+, QuASAR 0.1+, bowtie2 2.5+, bwa-mem2 2.2.1+, scipy 1.11+ (false_discovery_control), pandas 2+, pybedtools 0.10+.
Verify before use:
- CLI:
<tool> --versionthen<tool> --helpto confirm flags - Python:
pip show <package>thenhelp(module.function)to check signatures - R:
packageVersion('<pkg>')then?function_nameto verify parameters
If code throws unexpected errors, introspect the installed package and adapt rather than retrying.
Allele-Specific Accessibility
"Does this heterozygous SNP affect chromatin accessibility on its allele?" -> Count ATAC reads supporting reference vs alternative allele at heterozygous sites in the same individual; significant deviation from 50:50 indicates cis-regulatory effect. Requires careful handling of reference-allele mapping bias (WASP filtering) and within-individual binomial testing.
- CLI:
WASP(Geijn 2015) for de-biased reference mapping - CLI:
gatk ASEReadCounterfor allele-specific count tables - CLI:
RASQUAL(Kumasaka 2016) for joint cis-mapping with allelic counts - R:
QuASAR(Harvey 2015) for genotype + ASE inference simultaneously