VEP (Ensembl Variant Effect Predictor)

VEP (Ensembl Variant Effect Predictor) — gold-standard tool for annotating and predicting the functional effects of genomic variants on genes, transcripts, and protein sequences. Provides consequence

2 shared topics • 2 shared operations

M-CAP (Mendelian Clinically Applicable Pathogenicity) is a clinical-grade pathogenicity classifier for rare human missense variants. Developed at the Bejerano Lab (Stanford), it applies a gradient-boo

2 shared topics • 1 shared operation

Use when querying ClinGen — the Clinical Genome Resource — for expert-curated gene-disease validity classifications, variant pathogenicity interpretations, dosage sensitivity assessments, and clinical

2 shared topics

TCGAbiolinks for searching, downloading, and analyzing cancer genomics data from the NCI Genomic Data Commons (GDC). Routes tasks for GDCquery/GDCdownload, data preparation with GDCprepare, differenti

1 shared topic

Zarr — chunked, compressed N-dimensional arrays for Python with cloud-native storage. Provides hierarchical groups, pluggable compression codecs (Blosc, Zstd, Gzip), sharding for large-scale datasets,

1 shared topic