Results for “gnomad”

4 skills

Alterlab Clinvar

Query NCBI ClinVar via the E-utilities API or FTP for the clinical significance (pathogenicity) of human germline genetic variants, searching by gene, variant, condition, or genomic position and interpreting ACMG/AMP classifications and review-status star ratings. Use when assessing whether a variant is pathogenic, likely pathogenic, VUS, likely benign, or benign, resolving conflicting interpretations, or annotating a VCF with ClinVar clinical significance. For population allele frequencies by ancestry use alterlab-gnomad; for somatic cancer mutation frequencies use alterlab-cosmic. Part of the AlterLab Academic Skills suite.

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Game Development Game Audio Engineer

Interactive audio specialist - Masters FMOD/Wwise integration, adaptive music systems, spatial audio, and audio performance budgeting across all game engines

Expert game audio designer and implementer specializing in interactive sound design, adaptive music systems, spatial audio, and audio middleware integration. Brings deep knowledge of FMOD, Wwise, and native engine audio systems to create immersive sonic experiences that respond dynamically to gameplay. Use when "game audio, sound design, game music, FMOD, Wwise, spatial audio, 3D sound, audio middleware, game sfx, adaptive music, interactive audio, audio bus, game mixing, audio occlusion, reverb zones, audio pooling, sound manager, audio, sound, music, game-audio, fmod, wwise, spatial-audio, middleware, mixing, sound-design" mentioned.

Query the GTEx (Genotype-Tissue Expression) portal v2 REST API for tissue-specific gene expression (median TPM across 54 human tissues), expression QTLs (eQTLs), and splicing QTLs (sQTLs). Use when checking which tissues express a gene, finding which gene a non-coding/GWAS variant regulates via eQTLs, or interpreting variant regulatory effects across tissues. NOT for curated trait-variant associations (use alterlab-gwas), population allele frequencies or variant constraint (use alterlab-gnomad), or gene/transcript structure and ID mapping (use alterlab-ensembl). Part of the AlterLab Academic Skills suite.