P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423005216 |
| _version_ | 1797341960508276736 |
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| author | Emily Groopman Moriel Singer-Berk Nicola Whiffin Jamie Ellingford Samantha Baxter Heidi Rehm Anne O’Donnell-Luria |
| author_facet | Emily Groopman Moriel Singer-Berk Nicola Whiffin Jamie Ellingford Samantha Baxter Heidi Rehm Anne O’Donnell-Luria |
| author_sort | Emily Groopman |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:26:31Z |
| format | Article |
| id | doaj.art-5483b6c48b7242fe8212b5ed78e2b389 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:26:31Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-5483b6c48b7242fe8212b5ed78e2b3892024-01-27T07:08:55ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100521P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohortEmily Groopman0Moriel Singer-Berk1Nicola Whiffin2Jamie Ellingford3Samantha Baxter4Heidi Rehm5Anne O’Donnell-Luria6Broad Institute of MIT and Harvard, Cambridge, MA; Boston Children’s Hospital, Boston, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MABroad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MAWellcome Centre for Human Genetics at the University of Oxford, Oxford, UKDivision of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Biology, Medicines and Health, University of Manchester, Manchester, UKBroad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MABroad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MABroad Institute of MIT and Harvard, Cambridge, MA; Boston Children’s Hospital, Boston, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MAhttp://www.sciencedirect.com/science/article/pii/S2949774423005216 |
| spellingShingle | Emily Groopman Moriel Singer-Berk Nicola Whiffin Jamie Ellingford Samantha Baxter Heidi Rehm Anne O’Donnell-Luria P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort Genetics in Medicine Open |
| title | P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort |
| title_full | P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort |
| title_fullStr | P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort |
| title_full_unstemmed | P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort |
| title_short | P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort |
| title_sort | p474 applying the 2022 guidelines for non coding variant classification in a large rare disease cohort |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423005216 |
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