{"doi":"10.1016/j.fertnstert.2018.06.014","title":"Rapid preimplantation genetic screening using a handheld, nanopore-based DNA sequencer","abstract":null,"journal":"Fertility and Sterility","year":2018,"id":630140,"datarank":0.5416376868966337,"base_score":3.6109179126442243,"endowment":3.6109179126442243,"self_citation_contribution":0.5416376868966337,"citation_network_contribution":0.0,"self_endowment_contribution":0.5416376868966337,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":36,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"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":1609316,"name":"Zachary R. Weiss","orcid":null,"position":1,"is_corresponding":false},{"id":85697,"name":"Pallavi Gaur","orcid":"0000-0002-0286-1950","position":2,"is_corresponding":false},{"id":1155492,"name":"Eric Forman","orcid":null,"position":3,"is_corresponding":false},{"id":453287,"name":"Zev Williams","orcid":"0000-0001-8563-3250","position":4,"is_corresponding":false},{"id":742482,"name":"Shan Wei","orcid":"0009-0001-7901-5947","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Rapid preimplantation genetic screening using a handheld, nanopore-based DNA sequencer","abstract":"<h4>Objective</h4>To determine if a handheld, nanopore-based DNA sequencer can be used for rapid preimplantation genetic screening (PGS).<h4>Design</h4>Laboratory study.<h4>Setting</h4>Academic medical center.<h4>Patient(s)</h4>Amplified genomic DNA from euploid and aneuploid trophectoderm biopsy samples (n=9) that was also tested using traditional next generation sequencing (NGS).<h4>Intervention(s)</h4>Short-read DNA library preparation and nanopore-based sequencing using a hand-held MinION sequencer.<h4>Main outcome measure(s)</h4>Comparison of cytogenetic testing result from NGS and nanopore-based sequencing and the time required for library preparation and sequencing.<h4>Result(s)</h4>Multiplexed short-read DNA library preparation was completed in 45 minutes. Sequencing on a single sample was completed within 20 minutes and 5 samples were simultaneously sequenced in under 2 hours. Whole-chromosome aneuploidy screening results obtained from nanopore-based sequencing were identical to those obtained using NGS.<h4>Conclusion(s)</h4>Here we report the first application of nanopore-based sequencing for PGS on trophectoderm biopsy samples using a novel rapid multiplxed short-read nanopore sequencing library preparation protocol. Sequencing for aneuploidy screening could be performed on a single sample in 20 minutes and on 5 samples, simultaneously, within 2 hours. Overall, nanopore sequencing is a promising tool to perform rapid PGS onsite, enabling same day testing and embryo transfer, thus obviating the need for complex, large and expensive DNA sequencers or embryo freezing.","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"30316437","pmcid":"PMC8756381","openalex_id":null,"authors":[],"funders":[{"funder_name":"National Institutes of Health","grant_id":"HD068546","title":null},{"funder_name":"National Institutes of Health","grant_id":"U19CA179564","title":null},{"funder_name":"NICHD NIH HHS","grant_id":"R01 HD086327","title":null},{"funder_name":"NICHD NIH HHS","grant_id":"K08 HD068546","title":null},{"funder_name":"National Institutes of Health","grant_id":"5U19CA179564-02","title":"Biochemical and structural characterization of RNA turnover processes and resolu"},{"funder_name":"National Institutes of Health","grant_id":"5K08HD068546-05","title":"Transposons in Female Reproductive Health and Disease"}],"total_grants":6,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"bronze","license":"Elsevier Non-Commercial","oa_locations":[{"url":"http://www.fertstert.org/article/S0015028218304904/pdf","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0015028218304904?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0015028218304904?httpAccept=text/plain","host_type":"publisher"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8756381","host_type":"repository"},{"url":"https://doi.org/10.1016/j.fertnstert.2018.07.1184","host_type":""},{"url":"https://www.fertstert.org/article/S0015-0282(18)31776-X/pdf","host_type":""},{"url":"https://doi.org/10.1016/j.fertnstert.2018.06.014","host_type":""},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756381","host_type":""},{"url":"https://doi.org/10.1101/274563","host_type":""},{"url":"https://pubmed.ncbi.nlm.nih.gov/30316437","host_type":""},{"url":"https://dx.doi.org/10.1016/j.fertnstert.2018.06.014","host_type":""},{"url":"https://dx.doi.org/10.1101/274563","host_type":""},{"url":"http://dx.doi.org/10.1101/274563","host_type":""}],"fields_of_study":["03 medical and health sciences","0302 clinical medicine"],"mesh_terms":["Humans","Chromosome Disorders","Aneuploidy","Preimplantation Diagnosis","Pilot Projects","Sequence Analysis, DNA","Pregnancy","Time Factors","Female","Male","Genetic Testing","Nanopores"],"keywords":["Aneuploidy Screening","Rapid Preimplantation Genetic Screening","Handheld Nanopore Sequencer","Onsite Assay","Male","Time Factors","Chromosome Disorders","Pilot Projects","Sequence Analysis, DNA","Aneuploidy","Nanopores","Pregnancy","Humans","Female","Genetic Testing","Preimplantation Diagnosis"],"sdg_mappings":[{"sdg_number":2,"sdg_label":"2. Zero hunger"},{"sdg_number":3,"sdg_label":"3. Good health"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"doi"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-05T20:34:48.350068Z","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":[]}