Matthew Osmond, E. Magda Price, Orion J. Buske, Mackenzie Frew, Madeline Couse, Taila Hartley, Conor Klamann, Hannah G. B. H. Le, Jenny Xu, Delvin So, Anjali Jain, Kevin Lu, Kevin Mo, Hannah Wyllie, Erika Wall, Hannah G. Driver, Warren A. Cheung, Ana S.A. Cohen, Emily G. Farrow, Isabelle Thiffault, Care4Rare Canada Consortium, Andrei L. Turinsky, Tomi Pastinen, Michael Brudno, Kym M. Boycott
{"title":"One-Sided Matching Portal (OSMP): a tool to facilitate rare disease patient matchmaking","authors":"Matthew Osmond, E. Magda Price, Orion J. Buske, Mackenzie Frew, Madeline Couse, Taila Hartley, Conor Klamann, Hannah G. B. H. Le, Jenny Xu, Delvin So, Anjali Jain, Kevin Lu, Kevin Mo, Hannah Wyllie, Erika Wall, Hannah G. Driver, Warren A. Cheung, Ana S.A. Cohen, Emily G. Farrow, Isabelle Thiffault, Care4Rare Canada Consortium, Andrei L. Turinsky, Tomi Pastinen, Michael Brudno, Kym M. Boycott","doi":"10.1101/2024.09.03.24313012","DOIUrl":null,"url":null,"abstract":"<strong>Background</strong> Genomic matchmaking - the process of identifying multiple individuals with overlapping phenotypes and rare variants in the same gene - is an important tool facilitating gene discoveries for unsolved rare genetic disease (RGD) patients. Current approaches are two-sided, meaning both patients being matched must have the same candidate gene flagged. This limits the number of unsolved RGD patients eligible for matchmaking. A one-sided approach to matchmaking, in which a gene of interest is queried directly in the genome-wide sequencing data of RGD patients, would make matchmaking possible for previously undiscoverable individuals. However, platforms and workflows for this approach have not been well established.","PeriodicalId":501375,"journal":{"name":"medRxiv - Genetic and Genomic Medicine","volume":"6 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"medRxiv - Genetic and Genomic Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1101/2024.09.03.24313012","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Background Genomic matchmaking - the process of identifying multiple individuals with overlapping phenotypes and rare variants in the same gene - is an important tool facilitating gene discoveries for unsolved rare genetic disease (RGD) patients. Current approaches are two-sided, meaning both patients being matched must have the same candidate gene flagged. This limits the number of unsolved RGD patients eligible for matchmaking. A one-sided approach to matchmaking, in which a gene of interest is queried directly in the genome-wide sequencing data of RGD patients, would make matchmaking possible for previously undiscoverable individuals. However, platforms and workflows for this approach have not been well established.
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