Pinned Repositories
burden-test-public
chromozoom
ChromoZoom is a fast, fluid web-based genome browser
clusterUtil
utility scripts for HPC cluster usage
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.
mavequest-front-end
The frontend service of MaveQuest, a web resource to explore potential assays, phenotypes and clinical interests for human gene variants.
pacybara
A pacbio barcode clustering and barseq pipeline
pph2_and_rank
Ranks genes according to PolyPhen2 scores for a list of mutations
tileseq_package
DMS Tileseq sequence analysis pipeline
tileseqMave
The RothLab TileSeq analysis pipeline for MAVE
variant-effect-predictor-assessment
Roth Laboratory's Repositories
rothlab/chromozoom
ChromoZoom is a fast, fluid web-based genome browser
rothlab/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.
rothlab/pacybara
A pacbio barcode clustering and barseq pipeline
rothlab/tileseqMave
The RothLab TileSeq analysis pipeline for MAVE
rothlab/clusterUtil
utility scripts for HPC cluster usage
rothlab/burden-test-public
rothlab/mavequest-front-end
The frontend service of MaveQuest, a web resource to explore potential assays, phenotypes and clinical interests for human gene variants.
rothlab/pph2_and_rank
Ranks genes according to PolyPhen2 scores for a list of mutations
rothlab/tileseq_package
DMS Tileseq sequence analysis pipeline
rothlab/variant-effect-predictor-assessment
rothlab/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.
rothlab/pacbioTools
rothlab/proteomeLLR
LLR calculation for various variant effect predictors, proteome-wide
rothlab/docs
rothlab/tileseq_mutcount
Re-implement TileSeq mutation counts in python