التفاصيل البيبلوغرافية
| العنوان: |
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. |
| المؤلفون: |
Rehm, Heidi L, Alaimo, Joseph T, Aradhya, Swaroop, Bayrak-Toydemir, Pinar, Best, Hunter, Brandon, Rhonda, Buchan, Jillian G, Chao, Elizabeth C, Chen, Elaine, Clifford, Jacob, Cohen, Ana S A, Conlin, Laura K, Das, Soma, Davis, Kyle W, Del Gaudio, Daniela, Del Viso, Florencia, DiVincenzo, Christina, Eisenberg, Marcia, Guidugli, Lucia, Hammer, Monia B, Harrison, Steven M, Hatchell, Kathryn E, Dyer, Lindsay Havens, Hoang, Lily U, Holt, James M, Jobanputra, Vaidehi, Karbassi, Izabela D, Kearney, Hutton M, Kelly, Melissa A, Kelly, Jacob M, Kluge, Michelle L, Komala, Timothy, Kruszka, Paul, Lau, Lynette, Lebo, Matthew S, Marshall, Christian R, McKnight, Dianalee, McWalter, Kirsty, Meng, Yan, Nagan, Narasimhan, Neckelmann, Christian S, Neerman, Nir, Niu, Zhiyv, Paolillo, Vitoria K, Paolucci, Sarah A, Perry, Denise, Pesaran, Tina, Radtke, Kelly, Rasmussen, Kristen J, Retterer, Kyle, Saunders, Carol J, Spiteri, Elizabeth, Stanley, Christine, Szuto, Anna, Taft, Ryan J, Thiffault, Isabelle, Thomas, Brittany C, Thomas-Wilson, Amanda, Thorpe, Erin, Tidwell, Timothy J, Towne, Meghan C, Zouk, Hana |
| المصدر: |
Genet Med ; ISSN:1530-0366 ; Volume:25 ; Issue:12 |
| بيانات النشر: |
Elsevier Science |
| سنة النشر: |
2023 |
| المجموعة: |
PubMed Central (PMC) |
| مصطلحات موضوعية: |
Laboratory reporting methods, Multi-gene panels, VUS, Variants of uncertain significance |
| الوصف: |
Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS reported on diagnostic testing via multi-gene panels (MGPs) and exome and genome sequencing (ES/GS) to measure the magnitude of uncertain results and explore ways to reduce their potentially detrimental impact. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| العلاقة: |
https://doi.org/10.1016/j.gim.2023.100947Test; https://pubmed.ncbi.nlm.nih.gov/37534744Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10825061Test/ |
| DOI: |
10.1016/j.gim.2023.100947 |
| الإتاحة: |
https://doi.org/10.1016/j.gim.2023.100947Test
https://pubmed.ncbi.nlm.nih.gov/37534744Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10825061Test/ |
| حقوق: |
Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved. |
| رقم الانضمام: |
edsbas.F4783FC5 |
| قاعدة البيانات: |
BASE |
