{"doi":"10.2217/epi-2022-0453","title":"Performance Comparisons of Methylation and Structural Variants From Low-Input Whole-Genome Methylation Sequencing","abstract":"Aim: Whole-genome methylation sequencing carries both DNA methylation and structural variant information (single nucleotide variant [SNV]; copy number variant [CNV]); however, limited data is available on the reliability of obtaining this information simultaneously from low-input DNA using various library preparation and sequencing protocols. Methods: A HapMap NA12878 sample was sequenced with three protocols (EM-sequencing, QIA-sequencing and Swift-sequencing) and their performance was compared on CpG methylation measurement and SNV and CNV detection. Results: At low DNA input (10–25 ng), EM-sequencing was superior in almost all metrics except CNV detection where all protocols were similar. EM-sequencing captured the highest number of CpGs and true SNVs. Conclusion: EM-sequencing is suitable to detect methylation, SNVs and CNVs from single sequencing with low-input DNA.","journal":"Epigenomics","year":2023,"id":370861,"datarank":0.46409986274890147,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.17221334039060446,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.17221334039060446,"corpus_percentile":59.12431345246384,"corpus_rank":5285,"citation_count":6,"citer_count":6,"citers_with_citation_signal":4,"citers_with_endowment":4,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.821,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1130585,"name":"Saurabh Behati","orcid":null,"position":1,"is_corresponding":false},{"id":505295,"name":"Panwen Wang","orcid":"0000-0002-4614-8970","position":2,"is_corresponding":false},{"id":851375,"name":"Aditya Bhagwate","orcid":"0000-0003-0192-9594","position":3,"is_corresponding":false},{"id":904566,"name":"Samantha J. McDonough","orcid":null,"position":4,"is_corresponding":false},{"id":901960,"name":"Vivian Wang","orcid":"0009-0001-8689-314X","position":5,"is_corresponding":false},{"id":581446,"name":"William R. Taylor","orcid":"0000-0001-9032-847X","position":6,"is_corresponding":false},{"id":448691,"name":"Julie M. Cunningham","orcid":"0000-0002-8159-3025","position":7,"is_corresponding":false},{"id":252209,"name":"John B. Kisiel","orcid":"0000-0002-3840-5324","position":8,"is_corresponding":false},{"id":317433,"name":"Zhifu Sun","orcid":"0000-0001-8461-7523","position":0,"is_corresponding":true}],"reference_count":22,"raw_metadata":null,"created_at":"2026-07-19T01:15:41.237096Z","pmid":"36919677","pmcid":"PMC10072131","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":[]}