Article

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect

2022-04-26

Abstract excerpt

<h4>Background</h4> The impact of thousands of individual genetic variants on molecular phenotypes for disease-relevant genes remains unknown. Multiplexed assays for variant effect (MAVEs) are highly scalable methods to annotate the relevant variants. However, current software methods for analyzing MAVEs lack standardized annotation, can require cumbersome configuration, and do not easily scale to large target re...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 849c564b-114f-566c-8e1b-f4af98a76bb3
DOI: 10.1101/2022.04.25.489390

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effectDOI 10.1101/2022.04.25.489390Read

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect.Semantic proximity Read

DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies.Semantic proximity Read

MosaicSim: A Novel Mosaic Variant Simulator Reveals Diminishing Returns of Ultra-High Coverage for Mosaic Variant DetectionSemantic proximity Read

MaveRegistry: a collaboration platform for multiplexed assays of variant effectSemantic proximity Read

An open-source platform to distribute and interpret data from multiplexed assays of variant effectSemantic proximity Read

MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect.Semantic proximity Read

Variant scoring tools for deep mutational scanning.Semantic proximity Read

Site saturation mutagenesis of 500 human protein domains reveals the contribution of protein destabilization to genetic diseaseSemantic proximity Read

MU2A--reconciling the genome and transcriptome to determine the effects of base substitutions.Semantic proximity Read

SomatoSim: precision simulation of somatic single nucleotide variants.Semantic proximity Read

Multiplex Assessment of Protein Variant Abundance by Massively Parallel SequencingSemantic proximity Read

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.Semantic proximity Read