Roth Laboratory

chromozoom

ChromoZoom is a fast, fluid web-based genome browser

mave-gene-prioritization

R script to 1) Extract missense variants that had been observed in "clinical testing" (as opposed to "literature only") in ClinVar. 2) Calculating movability and reappearance parameters using the aggregated and capped Invitae variant counts. 3) Apply the movability and reappearance parameters to ClinVar genes, calculating their movability- and reappearance-weighted impact score (MARWIS), as well as their difficulty-adjusted impact score (DAIS). 4) Rank ClinVar genes.

pacybara

A pacbio barcode clustering and barseq pipeline

tileseqMave

The RothLab TileSeq analysis pipeline for MAVE

clusterUtil

utility scripts for HPC cluster usage

burden-test-public

mavequest-front-end

The frontend service of MaveQuest, a web resource to explore potential assays, phenotypes and clinical interests for human gene variants.

pph2_and_rank

Ranks genes according to PolyPhen2 scores for a list of mutations

tileseq_package

DMS Tileseq sequence analysis pipeline

variant-effect-predictor-assessment

maveregistry-front-end

MaveRegistry is a collaborative resource to catalyze collaboration, reduce redundant efforts, allow stakeholders to nominate targets, and enable tracking and sharing of progress on ongoing MAVE projects.

pacbioTools

proteomeLLR

LLR calculation for various variant effect predictors, proteome-wide

docs

tileseq_mutcount

Re-implement TileSeq mutation counts in python