{"doi":"10.1073/pnas.1701382114","title":"Bisulfite-converted duplexes for the strand-specific detection and quantification of rare mutations","abstract":"<jats:title>Significance</jats:title>\n                  <jats:p>The detection of rare mutations in clinical samples is essential to the screening, diagnosis, and treatment of cancer. Although next-generation sequencing has greatly enhanced the sensitivity of detecting mutations, the relatively high error rate of these platforms limits their overall clinical utility. The elimination of sequencing artifacts could facilitate the detection of early-stage cancers and provide improved treatment recommendations tailored to the genetic profile of a tumor. Here, we report the development of BiSeqS, a bisulfite conversion-based sequencing approach that allows for the strand-specific detection and quantification of rare mutations. We demonstrate that BiSeqS eliminates nearly all sequencing artifacts in three common types of mutations and thereby considerably increases the signal-to-noise ratio for diagnostic analyses.</jats:p>","journal":"Proceedings of the National Academy of Sciences","year":2017,"id":588362,"datarank":0.699858389889584,"base_score":2.833213344056216,"endowment":2.833213344056216,"self_citation_contribution":0.42498200160843247,"citation_network_contribution":0.27487638828115163,"self_endowment_contribution":0.42498200160843247,"citer_contribution":0.27487638828115163,"corpus_percentile":null,"corpus_rank":null,"citation_count":16,"citer_count":13,"citers_with_citation_signal":9,"citers_with_endowment":9,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":275545,"name":"Yuxuan Wang","orcid":"0000-0002-2932-6042","position":1,"is_corresponding":false},{"id":1505209,"name":"Simeon Springer","orcid":null,"position":2,"is_corresponding":false},{"id":109479,"name":"Joshua D. Cohen","orcid":"0000-0003-1158-5668","position":3,"is_corresponding":false},{"id":263709,"name":"Srinivasan Yegnasubramanian","orcid":"0000-0003-0744-6606","position":4,"is_corresponding":false},{"id":433837,"name":"William G. Nelson","orcid":"0000-0002-4379-0730","position":5,"is_corresponding":false},{"id":2256,"name":"Kenneth W. Kinzler","orcid":"0000-0001-5591-1176","position":6,"is_corresponding":false},{"id":2255,"name":"Bert Vogelstein","orcid":"0000-0003-0766-3854","position":7,"is_corresponding":false},{"id":2254,"name":"Nickolas Papadopoulos","orcid":"0000-0001-7135-7451","position":8,"is_corresponding":false},{"id":459884,"name":"Austin K. Mattox","orcid":"0000-0002-7567-5542","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Bisulfite-converted duplexes for the strand-specific detection and quantification of rare mutations","abstract":"<jats:title>Significance</jats:title>\n                  <jats:p>The detection of rare mutations in clinical samples is essential to the screening, diagnosis, and treatment of cancer. Although next-generation sequencing has greatly enhanced the sensitivity of detecting mutations, the relatively high error rate of these platforms limits their overall clinical utility. The elimination of sequencing artifacts could facilitate the detection of early-stage cancers and provide improved treatment recommendations tailored to the genetic profile of a tumor. Here, we report the development of BiSeqS, a bisulfite conversion-based sequencing approach that allows for the strand-specific detection and quantification of rare mutations. We demonstrate that BiSeqS eliminates nearly all sequencing artifacts in three common types of mutations and thereby considerably increases the signal-to-noise ratio for diagnostic analyses.</jats:p>","is_dataset_classified":null,"base_score":2.833213344056216,"endowment":2.833213344056216,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"28416672","pmcid":"PMC5422780","openalex_id":"https://openalex.org/W2605826110","authors":[],"funders":[{"funder_name":"HHS | National Institutes of Health","grant_id":"P50-CA62924","title":null},{"funder_name":"HHS | National Institutes of Health","grant_id":"CA 06973","title":null},{"funder_name":"HHS | National Institutes of Health","grant_id":"GM 07309","title":null},{"funder_name":"Virginia and D.K. Ludwig Fund for Cancer Research","grant_id":"N/A","title":null},{"funder_name":"NCI NIH HHS","grant_id":"P50 CA062924","title":null},{"funder_name":"NIGMS NIH HHS","grant_id":"T32 GM007309","title":null},{"funder_name":"NCI NIH HHS","grant_id":"P30 CA006973","title":null},{"funder_name":"NIGMS NIH HHS","grant_id":"T32 GM007814","title":null},{"funder_name":"Howard Hughes Medical Institute","grant_id":"","title":null},{"funder_name":"Howard Hughes Medical Institute","grant_id":"","title":null}],"total_grants":10,"fwci":0.7203,"citation_percentile":0.66049095,"influential_citations":0,"citation_trend":[{"year":2017,"count":1},{"year":2018,"count":3},{"year":2019,"count":3},{"year":2020,"count":1},{"year":2021,"count":1},{"year":2022,"count":1},{"year":2023,"count":1},{"year":2024,"count":2},{"year":2025,"count":3}],"oa_status":"bronze","license":"http://www.pnas.org/site/misc/userlicense.xhtml","oa_locations":[{"url":"https://www.pnas.org/content/pnas/114/18/4733.full.pdf","host_type":"journal"},{"url":"https://www.pnas.org/content/pnas/114/18/4733.full.pdf","host_type":"publisher"},{"url":"http://www.pnas.org/syndication/doi/10.1073/pnas.1701382114","host_type":"publisher"},{"url":"https://pnas.org/doi/pdf/10.1073/pnas.1701382114","host_type":"publisher"},{"url":"https://doi.org/10.1073/pnas.1701382114","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/28416672","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5422780","host_type":"repository"}],"fields_of_study":["Cancer Genomics and Diagnostics","Innovative Microfluidic and Catalytic Techniques Innovation","Advanced biosensing and bioanalysis techniques","DNA Mutational Analysis","DNA, Neoplasm","Humans","Mutation","Neoplasms","Sulfites"],"mesh_terms":["DNA Mutational Analysis","DNA, Neoplasm","Humans","Mutation","Neoplasms","Sulfites"],"keywords":["Massive parallel sequencing","Amplicon","Computational biology","DNA sequencing","Biology","DNA","Massively parallel","Bisulfite","Mutation","Digital polymerase chain reaction","Genetics","Sequencing by ligation","Polymerase chain reaction","Base sequence","Gene","Genomic library","Computer science","DNA methylation","Next-generation Sequencing","Bisulfite Sequencing","Strand-specificity"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"ega"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-20T11:47:50.603886Z","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":[]}