Skill UI

Query Ensembl’s RESTful API to access gene annotations, sequences, variants, orthologs, and assembly mappings across 250+ species, enabling integration into genomic research 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.

This comprehensive guide provides blueprints for implementing optimal Snowflake data architectures. It covers diverse patterns, including traditional data warehouses, Lakehouse designs using Iceberg tables, decentralized Data Mesh structures, and advanced data sharing and Snowpark native patterns. Use this when designing enterprise data platforms across varying scales.

This skill provides querying capabilities for the 1000 Genomes Project dataset, covering 3,202 whole-genome-sequenced individuals on the GRCh38 assembly. It allows users to identify variants within a region, find specific individuals who carry defined genetic variants, or determine the relatedness between two named individuals. Results include allele frequencies (AF), AlphaMissense scores, and various clinical annotations. Use this tool for advanced genomic cohort analysis.

A comprehensive guide for authors assessing whether their genomics or genetics research meets the rigorous standards of Nature Genetics. It details the journal's scope (GWAS, functional genomics, rare variants), the required methodology and evidence bar, and essential house style guidelines for submission.