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Genome Medicine|February 23, 2021
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scoresPhilipp Rentzsch, Max Schubach, Jay Shendure, et al.Nucleic Acids Research|October 30, 2018
CADD: predicting the deleteriousness of variants throughout the human genomePhilipp Rentzsch, Daniela Witten, Gregory M Cooper, et al.Nature Genetics|July 30, 2015
Running spell-check to identify regulatory variantsMartin Kircher, Jay ShendureGigascience|April 21, 2023
The Regulatory Mendelian Mutation score for GRCh38Max Schubach, Lusiné Nazaretyan, Martin KircherGenome Medicine|August 4, 2025
varCADD: large sets of standing genetic variation enable genome-wide pathogenicity predictionLusiné Nazaretyan, Philipp Rentzsch, Martin KircherPlos One|December 1, 2020
The impact of different negative training data on regulatory sequence predictionsLouisa-Marie Krützfeldt, Max Schubach, Martin KircherNature Communications|August 10, 2019
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolutionMartin Kircher, Chenling Xiong, Beth Martin, et al.BMC Biology|November 20, 2019
Concurrent genome and epigenome editing by CRISPR-mediated sequence replacementJes Alexander, Gregory M Findlay, Martin Kircher, et al.Nucleic Acids Research|January 6, 2024
CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictionsMax Schubach, Thorben Maass, Lusiné Nazaretyan, et al.Biorxiv : the Preprint Server for Biology|March 22, 2023
Massively parallel characterization of transcriptional regulatory elements in three diverse human cell typesVikram Agarwal, Fumitaka Inoue, Max Schubach, et al.Pageof 50