Can I use this for variant calling workflows?

Absolutely. Pysam provides comprehensive support for reading and writing VCF/BCF files, allowing you to manipulate genotypes, filter variants by quality, and access INFO or FORMAT fields.

Does it support coordinate conversions?

Pysam uses 0-based, half-open coordinates internally (Python convention). This skill provides guidance on handling the differences between 0-based Pysam indices and 1-based biological coordinate systems.

Does this skill handle large genomic files efficiently?

Yes, Pysam uses htslib for high-performance C-level access and supports random access via index files (BAI, TBI, FAI) to query specific regions without reading the entire file.

Can I run samtools commands through this skill?

Yes, the skill includes implementation patterns for calling samtools and bcftools functions (like sort, index, and view) directly from within your Python scripts.

Pysam Genomics Toolkit

Name: Pysam Genomics Toolkit
Author: x-cmd

byx-cmd

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데이터 과학 및 ML

Processes genomic datasets including sequence alignments, variants, and reference sequences using a Pythonic interface to htslib.

소개

Pysam is a specialized Python module designed for bioinformaticians and researchers to efficiently read, manipulate, and write high-throughput sequencing data. This skill enables Claude to handle complex genomic file formats like SAM/BAM/CRAM, VCF/BCF, and FASTA/FASTQ, providing implementation patterns for region-based queries, pileup analysis, and coverage calculation. It is an essential tool for building automated NGS pipelines, performing quality control, or extracting specific genetic information from large-scale biological datasets using htslib-backed performance.

주요 기능

8 GitHub stars
Extract FASTA/FASTQ sequences with high-performance random access
Read and write SAM/BAM/CRAM alignment files
Query and filter VCF/BCF variant files using region-based fetching
Execute samtools and bcftools commands directly from Python
Perform pileup analysis for base-by-base coverage calculation

사용 사례

Building automated Next-Generation Sequencing (NGS) analysis pipelines
Calculating read depth and coverage statistics for genomic regions
Filtering and annotating genetic variants for clinical or population research

소개

주요 기능

8 GitHub stars
Extract FASTA/FASTQ sequences with high-performance random access
Read and write SAM/BAM/CRAM alignment files
Query and filter VCF/BCF variant files using region-based fetching
Execute samtools and bcftools commands directly from Python
Perform pileup analysis for base-by-base coverage calculation

사용 사례

Building automated Next-Generation Sequencing (NGS) analysis pipelines
Calculating read depth and coverage statistics for genomic regions
Filtering and annotating genetic variants for clinical or population research