Making sense of missense: challenges and opportunities in variant pathogenicity prediction
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
The Company of Biologists
2024-12-01
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| Series: | Disease Models & Mechanisms |
| Online Access: | http://dmm.biologists.org/content/17/12/dmm052218 |
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| _version_ | 1850071010183741440 |
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| author | Ivan Molotkov Elaine R. Mardis Mykyta Artomov |
| author_facet | Ivan Molotkov Elaine R. Mardis Mykyta Artomov |
| author_sort | Ivan Molotkov |
| collection | DOAJ |
| format | Article |
| id | doaj-art-96dbf5237bea41ba89b4f9d3eadcc6db |
| institution | DOAJ |
| issn | 1754-8403 1754-8411 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | The Company of Biologists |
| record_format | Article |
| series | Disease Models & Mechanisms |
| spelling | doaj-art-96dbf5237bea41ba89b4f9d3eadcc6db2025-08-20T02:47:24ZengThe Company of BiologistsDisease Models & Mechanisms1754-84031754-84112024-12-01171210.1242/dmm.052218052218Making sense of missense: challenges and opportunities in variant pathogenicity predictionIvan Molotkov0Elaine R. Mardis1Mykyta Artomov2 The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH 43215, USA The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH 43215, USA The Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH 43215, USA http://dmm.biologists.org/content/17/12/dmm052218 |
| spellingShingle | Ivan Molotkov Elaine R. Mardis Mykyta Artomov Making sense of missense: challenges and opportunities in variant pathogenicity prediction Disease Models & Mechanisms |
| title | Making sense of missense: challenges and opportunities in variant pathogenicity prediction |
| title_full | Making sense of missense: challenges and opportunities in variant pathogenicity prediction |
| title_fullStr | Making sense of missense: challenges and opportunities in variant pathogenicity prediction |
| title_full_unstemmed | Making sense of missense: challenges and opportunities in variant pathogenicity prediction |
| title_short | Making sense of missense: challenges and opportunities in variant pathogenicity prediction |
| title_sort | making sense of missense challenges and opportunities in variant pathogenicity prediction |
| url | http://dmm.biologists.org/content/17/12/dmm052218 |
| work_keys_str_mv | AT ivanmolotkov makingsenseofmissensechallengesandopportunitiesinvariantpathogenicityprediction AT elainermardis makingsenseofmissensechallengesandopportunitiesinvariantpathogenicityprediction AT mykytaartomov makingsenseofmissensechallengesandopportunitiesinvariantpathogenicityprediction |