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Paper Details

Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Am J Hum Genet
27
2021
5' and 3' ends, AG/GT dinucleotides, SQUIRLS, Splice variants, acceptor, candidate splicing regulatory sequences, dinucleotide, dinucleotide sequences, donor, exon, introns, nucleotide, splice variants, wild-type and variant sequences
Algorithms, Base Sequence, Computational Biology, Data Curation, Exome, Exome Sequencing, Exons, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Humans, Introns, Mutation, RNA Splice Sites, RNA Splicing, Software
Author NameAffiliation
Julius O B JacobsenWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London
Leigh C Carmody
Leigh C Carmody
Michael Gargano
Julie A McMurryUniversity of Colorado Anschutz Medical Campus
Julie A McMurryUniversity of Colorado Anschutz Medical Campus
Ayushi Hegde
Melissa A HaendelUniversity of Colorado Anschutz Medical Campus
Melissa A HaendelUniversity of Colorado Anschutz Medical Campus
Giorgio ValentiniUniversita degli Studi di Milano, Italy CINI National Laboratory in Artificial Intelligence and Intelligent Systems-AIIS
Damian SmedleyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London
Peter N RobinsonUSA Institute for Systems Genomics, University of Connecticut
Peter N RobinsonUSA Institute for Systems Genomics, University of Connecticut
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