FixItFelix: improving genomic analysis by fixing reference errors

The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the variant calling of 33 protein-coding genes, including 12 with medical relevance. Here, we present FixItFelix, an e...

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Detalles Bibliográficos
Autores principales: Behera, Sairam, LeFaive, Jonathon, Orchard, Peter, Mahmoud, Medhat, Paulin, Luis F., Farek, Jesse, Soto, Daniela C., Parker, Stephen C. J., Smith, Albert V., Dennis, Megan Y., Zook, Justin M., Sedlazeck, Fritz J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942314/
https://www.ncbi.nlm.nih.gov/pubmed/36810122
http://dx.doi.org/10.1186/s13059-023-02863-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942314/
https://www.ncbi.nlm.nih.gov/pubmed/36810122
http://dx.doi.org/10.1186/s13059-023-02863-7

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