Cargando…
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...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2023
|
| Materias: | |
| 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 |