ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Tshering Kezang C, DiStefano Marina T, Oza Andrea M, Ajuyah Pamela, Webb Ryan, Edoh Enyonam, Broeren Ellie, Ratliff Julie, Gitau Vanessa, Paris Kelley, Aburyyan Amal, Alexander John, Albano Victoria, Bai Donglin, Booth Kevin T A, Buonfiglio Paula I, Charfeddine Cherine, Dalamón Viviana, Castillo Ignacio Del, Moreno-Pelayo Miguel Angel, Duzkale Hatice, Dorshorst Ben, Faridi Rabia, Kenna Margaret, Lewis Morag A, Luo Minjie, Lu Yu, Mkaouar Rahma, Matsunaga Tatsuo, Nara Kiyomitsu, Pandya Arti, Redfield Shelby, Roux Isabelle, Schimmenti Lisa A, Schrauwen Isabelle, Shaaban Sherin, Shen Jun, Vona Barbara, Smith Richard J, Rehm Heidi L, Azaiez Hela, Abou Tayoun Ahmad N, Amr Sami S, ClinGen Hearing Loss Clinical Domain Working Group
Аннотация
METHODS: Thirty-five GDRs met the criteria for recuration within 2 years of original curation. Previous evidence was reevaluated using the latest curation guidelines, and a comprehensive literature review was performed to obtain new evidence. Recurations were approved by the Gene Curation Expert Panel and published on the ClinGen website (www.clinicalgenome.org).
RESULTS: Eight of 35 GDRs (22%) changed their classification. Two Moderate and 5 Strong GDRs were upgraded to Definitive because of new case evidence. One Strong was subsumed under another Definitive GDR after evaluation of the lumping/splitting of disease entities. Twenty-seven of 35 patients remained unchanged, with little to no new evidence reported.
CONCLUSION: Genes classified as Moderate and Strong were likely to build evidence and change their classification over time, whereas Limited were unlikely to gain evidence. These findings highlight the critical role of recuration in ensuring that genetic tests and research studies incorporate the most recent evidence into their efforts.