Evaluating variants classified as pathogenic in ClinVar in the DDD Study

PURPOSE: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may be being routinely excluded by standard variant filtering pipelines. METHODS: We...

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Detalles Bibliográficos
Autores principales: Wright, Caroline F., Eberhardt, Ruth Y., Constantinou, Panayiotis, Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935711/
https://www.ncbi.nlm.nih.gov/pubmed/33149276
http://dx.doi.org/10.1038/s41436-020-01021-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935711/
https://www.ncbi.nlm.nih.gov/pubmed/33149276
http://dx.doi.org/10.1038/s41436-020-01021-9

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