{"doi":"10.1101/2022.08.08.503226","title":"The first gapless, reference-quality, fully annotated genome from a Southern Han Chinese individual","abstract":"Abstract We used long-read DNA sequencing to assemble the genome of a Southern Han Chinese male. We organized the sequence into chromosomes and filled in gaps using the recently completed CHM13 genome as a guide, yielding a gap-free genome, Han1, containing 3,099,707,698 bases. Using the CHM13 annotation as a reference, we mapped all genes onto the Han1 genome and identified additional gene copies, generating a total of 60,708 genes, of which 20,003 are protein coding. A comprehensive comparison between the genes revealed that 235 protein-coding genes were substantially different between the individuals, with frameshifts or truncations affecting the protein-coding sequence. Most of these were heterozygous variants in which one gene copy was unaffected. This represents the first gene-level comparison between two finished, annotated individual human genomes.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2022,"id":298343,"datarank":0.35015408748332194,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.05826756512502488,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.05826756512502488,"corpus_percentile":49.69443799798871,"corpus_rank":6504,"citation_count":6,"citer_count":5,"citers_with_citation_signal":4,"citers_with_endowment":4,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.9533,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":30911,"name":"Aleksey V. Zimin","orcid":"0000-0001-5091-3092","position":1,"is_corresponding":false},{"id":16222,"name":"Mihaela Pertea","orcid":"0000-0003-0762-8637","position":2,"is_corresponding":false},{"id":4334,"name":"Steven L. Salzberg","orcid":"0000-0002-8859-7432","position":3,"is_corresponding":false},{"id":985730,"name":"Kuan-Hao Chao","orcid":"0000-0003-0099-0692","position":0,"is_corresponding":true}],"reference_count":48,"raw_metadata":null,"created_at":"2026-07-19T00:31:36.269611Z","pmid":null,"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":[]}