Discordant calls across genotype discovery approaches elucidate variants with systematic errors

Large-scale high-throughput sequencing data sets have been transformative for informing clinical variant interpretation and for use as reference panels for statistical and population genetic efforts. Although such resources are often treated as ground truth, we find that in widely used reference dat...

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Detalles Bibliográficos
Autores principales: Atkinson, Elizabeth G., Artomov, Mykyta, Loboda, Alexander A., Rehm, Heidi L., MacArthur, Daniel G., Karczewski, Konrad J., Neale, Benjamin M., Daly, Mark J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Resource
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10519400/
https://www.ncbi.nlm.nih.gov/pubmed/37253541
http://dx.doi.org/10.1101/gr.277908.123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10519400/
https://www.ncbi.nlm.nih.gov/pubmed/37253541
http://dx.doi.org/10.1101/gr.277908.123

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