{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rosignoli S"],"funding":["Telethon","European Research Council","Italy Ministry of University and Research PRIN","Associazione Italiana Ricerca sul Cancro","Sapienza University of Rome"],"pagination":["W29-W38"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11223865"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["52(W1)"],"pubmed_abstract":["Gene therapy of dominantly inherited genetic diseases requires either the selective disruption of the mutant allele or the editing of the specific mutation. The CRISPR-Cas system holds great potential for the genetic correction of single nucleotide variants (SNVs), including dominant mutations. However, distinguishing between single-nucleotide variations in a pathogenic genomic context remains challenging. The presence of a PAM in the disease-causing allele can guide its precise targeting, preserving the functionality of the wild-type allele. The AlPaCas (Aligning Patients to Cas) webserver is an automated pipeline for sequence-based identification and structural analysis of SNV-derived PAMs that satisfy this demand. When provided with a gene/SNV input, AlPaCas can: (i) identify SNV-derive"],"journal":["Nucleic acids research"],"pubmed_title":["AlPaCas: allele-specific CRISPR gene editing through a protospacer-adjacent-motif (PAM) approach."],"pmcid":["PMC11223865"],"funding_grant_id":["101019289","GGP20088","RM1221815D52AB32","2022N3JXLA","20447"],"pubmed_authors":["Conci A","Lustrino E","Enzo E","Latella MC","De Luca M","Fabrizi A","Rinaldo S","Prosseda G","De Rosa L","Rosignoli S","Paiardini A"],"additional_accession":[]},"is_claimable":false,"name":"AlPaCas: allele-specific CRISPR gene editing through a protospacer-adjacent-motif (PAM) approach.","description":"Gene therapy of dominantly inherited genetic diseases requires either the selective disruption of the mutant allele or the editing of the specific mutation. The CRISPR-Cas system holds great potential for the genetic correction of single nucleotide variants (SNVs), including dominant mutations. However, distinguishing between single-nucleotide variations in a pathogenic genomic context remains challenging. The presence of a PAM in the disease-causing allele can guide its precise targeting, preserving the functionality of the wild-type allele. The AlPaCas (Aligning Patients to Cas) webserver is an automated pipeline for sequence-based identification and structural analysis of SNV-derived PAMs that satisfy this demand. When provided with a gene/SNV input, AlPaCas can: (i) identify SNV-derive","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-06-02T22:49:29.348Z","creation":"2025-04-04T12:22:06.565Z"},"accession":"S-EPMC11223865","cross_references":{"pubmed":["38795068"],"doi":["10.1093/nar/gkae419"]}}