P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations*
Saved in:
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425010374 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850139234648719360 |
|---|---|
| author | Peter Bui Colyn Cain Julie Cox Mark Fleharty Yueyao Gao Benjamin Hilton Sean Hofherr Katie Larkin Guang Li David Marsh Sarah South Reha Toydemir |
| author_facet | Peter Bui Colyn Cain Julie Cox Mark Fleharty Yueyao Gao Benjamin Hilton Sean Hofherr Katie Larkin Guang Li David Marsh Sarah South Reha Toydemir |
| author_sort | Peter Bui |
| collection | DOAJ |
| format | Article |
| id | doaj-art-b032e43d98de47bfb6639645a333141c |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-b032e43d98de47bfb6639645a333141c2025-08-20T02:30:23ZengElsevierGenetics in Medicine Open2949-77442025-01-01310299810.1016/j.gimo.2025.102998P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations*Peter Bui0Colyn Cain1Julie Cox2Mark Fleharty3Yueyao Gao4Benjamin Hilton5Sean Hofherr6Katie Larkin7Guang Li8David Marsh9Sarah South10Reha Toydemir11Quest DiagnosticsQuest DiagnosticsQuest DiagnosticsBroad Clinical Laboratories, LLCBroad Clinical Laboratories, LLCQuest DiagnosticsBroad Clinical Laboratories, LLCBroad Clinical Laboratories, LLCQuest DiagnosticsQuest DiagnosticsQuest DiagnosticsQuest Diagnosticshttp://www.sciencedirect.com/science/article/pii/S2949774425010374 |
| spellingShingle | Peter Bui Colyn Cain Julie Cox Mark Fleharty Yueyao Gao Benjamin Hilton Sean Hofherr Katie Larkin Guang Li David Marsh Sarah South Reha Toydemir P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations* Genetics in Medicine Open |
| title | P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations* |
| title_full | P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations* |
| title_fullStr | P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations* |
| title_full_unstemmed | P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations* |
| title_short | P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations* |
| title_sort | p629 analytical performance evaluation of whole genome sequencing as first line genetic testing for intellectual development disorders and congenital malformations |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425010374 |
| work_keys_str_mv | AT peterbui p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT colyncain p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT juliecox p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT markfleharty p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT yueyaogao p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT benjaminhilton p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT seanhofherr p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT katielarkin p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT guangli p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT davidmarsh p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT sarahsouth p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations AT rehatoydemir p629analyticalperformanceevaluationofwholegenomesequencingasfirstlinegenetictestingforintellectualdevelopmentdisordersandcongenitalmalformations |