{"doi":"10.1016/j.csbj.2024.12.026","title":"The topography of nullomer-emerging mutations and their relevance to human disease","abstract":"Nullomers are short DNA sequences (11-18 base pairs) that are absent from a genome; however, they can emerge due to mutations. Here, we characterize all possible putative human nullomer-emerging single base pair mutations, population variants and disease-causing mutations. We find that the primary determinants of nullomer emergence in the human genome are the presence of CpG dinucleotides and methylated cytosines. Putative nullomer-emerging mutations are enriched at specific genomic elements, including transcription start and end sites, splice sites and transcription factor binding sites. We also observe that putative nullomer-emerging mutations are more frequent in highly conserved regions and show preferential location at nucleosomes. Among repeat elements, Alu repeats exhibit pronounced enrichment for putative nullomer-emerging mutations at specific positions. Finally, we find that disease-associated pathogenic mutations are significantly more likely to cause emergence of nullomers than their benign counterparts.","journal":"Computational and Structural Biotechnology Journal","year":2024,"id":472836,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9517,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1273314,"name":"Ioannis Mouratidis","orcid":"0000-0002-1025-8780","position":1,"is_corresponding":false},{"id":766618,"name":"Austin Montgomery","orcid":"0000-0003-0374-4390","position":2,"is_corresponding":false},{"id":1308742,"name":"Georgios Christos Tsiatsianis","orcid":null,"position":3,"is_corresponding":false},{"id":1273313,"name":"Nikol Chantzi","orcid":"0009-0005-4947-0745","position":4,"is_corresponding":false},{"id":92263,"name":"Martin Hemberg","orcid":"0000-0001-8895-5239","position":5,"is_corresponding":false},{"id":6730,"name":"Nadav Ahituv","orcid":"0000-0002-7434-8144","position":6,"is_corresponding":false},{"id":38299,"name":"Ilias Georgakopoulos-Soares","orcid":"0000-0003-3641-1488","position":7,"is_corresponding":false},{"id":464213,"name":"Candace S. Y. Chan","orcid":"0000-0001-9667-7996","position":0,"is_corresponding":true}],"reference_count":44,"raw_metadata":null,"created_at":"2026-07-19T02:05:57.032095Z","pmid":"39839549","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}