Skill UI

Query NCBI ClinVar for variant clinical significance, mixing gene/condition searches, API/FTP downloads, and VCF annotations to support genomic medicine interpretation workflows.

Integrate with the DNAnexus cloud genomics platform to build apps/applets, manage FASTQ/BAM/VCF data, run workflows, and script automations via dxpy for biomedical pipelines.

Pysam offers Python bindings to htslib for reading and writing SAM/BAM/CRAM alignments, VCF/BCF variants, and FASTA/FASTQ sequences, enabling coverage stats, pileup analysis, variant queries, and seamless integration into NGS pipelines.

TileDB-VCF lets you ingest, store, query, and export large genomic VCF/BCF datasets using TileDB’s sparse arrays, supporting incremental sample growth, parallel regions queries, and cloud-local interoperability for population genomics workflows.

Integrate with the DNAnexus cloud genomics platform to build apps/applets, manage FASTQ/BAM/VCF data, run workflows, and script automations via dxpy for biomedical pipelines.

Pysam offers Python bindings to htslib for reading and writing SAM/BAM/CRAM alignments, VCF/BCF variants, and FASTA/FASTQ sequences, enabling coverage stats, pileup analysis, variant queries, and seamless integration into NGS pipelines.

TileDB-VCF is a high-performance library built on TileDB's sparse array technology, designed for the efficient storage and retrieval of large-scale genomic variant-call data (VCF/BCF). It supports scalable, incremental ingestion of single-sample VCF/BCF files and enables highly efficient parallel querying across vast genomic regions and multiple samples. This tool is essential for building robust population genomics databases, conducting GWAS, and performing large-scale cohort studies.