variant-calling
De la autor
Germline and somatic short-variant calling pipeline for Illumina short-read data. Use when the user mentions BWA, BWA-MEM2, GATK, HaplotypeCaller, Mutect2, VCF, GVCF, VQSR, variant calling, germline, somatic, SNV, or indel calling from FASTQ/BAM.
Instalare
npx skills add awslabs/hcls-agent-skills --skill variant-calling -a claude-code
Se instalează în .claude/skills/variant-calling/ · Fiecare comandă descarcă skill-ul direct de pe GitHub cu utilitarul open source skills.
Identic octet cu octet cu commit-ul scanat, cu licența depozitului și un fișier SOURCE.txt.
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Verificări de siguranță pe SKILL.md
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De ce 76
aiqbench calculează scorul de încredere din semnale publice. Nu este un audit de securitate, așa că citește un skill înainte să-l instalezi.
Skill-uri similare
Cele mai apropiate de acesta prin ce fac și când sunt folosite.
- gatk-variant-callingjaechang-hits/SciAgent-SkillsGATK Best Practices for germline SNP/indel calling from WGS/WES BAMs. Per-sample HaplotypeCaller GVCFs, GenomicsDBImport, GenotypeGVCFs joint calling, VQSR or hard filters. Requires BWA-MEM2-aligned, markdup, BQSR BAMs. Use DeepVariant for a faster DL alternative; GATK is the NIH/ENCODE standard.Știință★ 385
- alterlab-nf-core-sarekAlterLab-IEU/AlterLab-Academic-SkillsRuns FASTQ-to-VCF germline and somatic variant calling via the Nextflow nf-core/sarek pipeline pinned to -r 3.10.0 — builds the samplesheet.csv (patient, sex, status, sample, lane, fastq_1, fastq_2), runs bwa-mem/bwa-mem2/dragmap alignment plus GATK4 MarkDuplicates and BQSR against the GATK GRCh38 resource bundle (dbSNP, Mills/1000G indels), and selects callers — explicitly correcting that sarek defaults to Strelka when --tools is unset (pass haplotypecaller for GATK best practice or deepvariant for CNN accuracy), with a non-Nextflow manual GATK4 fallback. Use when the user wants a variant-calling pipeline, FASTQ to VCF, germline or somatic SNV/indel calling, nf-core/sarek, GATK best-practices alignment-to-VCF, or BQSR/HaplotypeCaller/Mutect2/DeepVariant; annotate hits with alterlab-clinvar/alterlab-gnomad/alterlab-cosmic, parse VCFs with alterlab-pysam, store at scale with alterlab-tiledbvcf. Part of the AlterLab Academic Skills suite.Date★ 84
- pysam-genomic-filesjaechang-hits/SciAgent-SkillsRead/write SAM/BAM/CRAM, VCF/BCF, FASTA/FASTQ. Region queries, pileup, variant filtering, read groups. Python htslib wrapper exposing samtools/bcftools CLI. Use STAR/BWA for alignment; GATK/DeepVariant for variant calling.Știință★ 385
- seq-wrangleraAAaqwq/AGI-Super-TeamSequence QC, alignment, and BAM processing. Wraps FastQC, BWA/Bowtie2, SAMtools for automated read-to-BAM pipelines.Altele★ 112
- bwa-mem2-dna-alignerjaechang-hits/SciAgent-SkillsFast short-read DNA aligner for WGS/WES/ChIP-seq. 2× faster BWA-MEM successor; outputs SAM/BAM with read group headers for GATK. Primary plus supplementary records for chimeric reads. Use STAR for RNA-seq splice-aware alignment; Bowtie2 is a comparable alternative.Altele★ 385
- cosmic-databasejaechang-hits/SciAgent-SkillsQuery COSMIC for cancer somatic mutations, gene census, mutational signatures, drug resistance variants. REST API v3.1 supports gene/sample/variant queries; free registration. For germline use clinvar-database; for drug-target data use opentargets-database or chembl-database-bioactivity.Date★ 385
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