P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*
| Main Authors: | , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424006289 |
| _version_ | 1797267460752146432 |
|---|---|
| author | Emily Spector Erica Andersen John Herriges Anne Higgins Brynn Levy Ludmila Matyakhina Christa Martin Daniel Pineda-Alvarez Lina Shao Shashirekha Shetty Andrea Vaags Erik Thorland Sung-Hae Kang Chelsea Lowther Dominic McMullan Erin Riggs |
| author_facet | Emily Spector Erica Andersen John Herriges Anne Higgins Brynn Levy Ludmila Matyakhina Christa Martin Daniel Pineda-Alvarez Lina Shao Shashirekha Shetty Andrea Vaags Erik Thorland Sung-Hae Kang Chelsea Lowther Dominic McMullan Erin Riggs |
| author_sort | Emily Spector |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:16:57Z |
| format | Article |
| id | doaj.art-6b825c0959e04ded8ace392a65ab52d6 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:16:57Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-6b825c0959e04ded8ace392a65ab52d62024-03-09T09:32:46ZengElsevierGenetics in Medicine Open2949-77442024-01-012101482P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*Emily Spector0Erica Andersen1John Herriges2Anne Higgins3Brynn Levy4Ludmila Matyakhina5Christa Martin6Daniel Pineda-Alvarez7Lina Shao8Shashirekha Shetty9Andrea Vaags10Erik Thorland11Sung-Hae Kang12Chelsea Lowther13Dominic McMullan14Erin Riggs15Autism & Developmental Medicine Institute, Geisinger, Danville, PAARUP Laboratories, University of Utah, Salt Lake City, UTDepartment of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MOCytogenetics and Genomics, Quest Diagnostics, Marlborough, MAColumbia University Irving Medical Center, New York, NYGeneDx, Gaithersburg, MDAutism & Developmental Medicine Institute, Geisinger, Danville, PAInvitae, San Francisco, CADepartment of Pathology, University of Michigan, Ann Arbor, MICase Western Reserve University, Cleveland, OHTrillium Health Partners, Mississauga, Ontario, CA and University of Toronto, Toronto, Ontario, CADepartment of Laboratory Medicine and Pathology, Mayo ClinicDepartment of Pathology and Laboratory Medicine, University of California, Los Angeles, Los AngelesCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MAWest Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation TrustAutism & Developmental Medicine Institute, Geisinger, Danville, PAhttp://www.sciencedirect.com/science/article/pii/S2949774424006289 |
| spellingShingle | Emily Spector Erica Andersen John Herriges Anne Higgins Brynn Levy Ludmila Matyakhina Christa Martin Daniel Pineda-Alvarez Lina Shao Shashirekha Shetty Andrea Vaags Erik Thorland Sung-Hae Kang Chelsea Lowther Dominic McMullan Erin Riggs P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* Genetics in Medicine Open |
| title | P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* |
| title_full | P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* |
| title_fullStr | P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* |
| title_full_unstemmed | P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* |
| title_short | P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* |
| title_sort | p576 recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants cnvs |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424006289 |
| work_keys_str_mv | AT emilyspector p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT ericaandersen p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT johnherriges p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT annehiggins p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT brynnlevy p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT ludmilamatyakhina p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT christamartin p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT danielpinedaalvarez p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT linashao p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT shashirekhashetty p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT andreavaags p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT erikthorland p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT sunghaekang p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT chelsealowther p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT dominicmcmullan p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs AT erinriggs p576recalibrationofscoringmetricstoassessthepathogenicityofconstitutionalcopynumbervariantscnvs |