A complete pedigree-based graph workflow for rare candidate variant analysis

Methods that use a linear genome reference for genome sequencing data analysis are reference-biased. In the field of clinical genetics for rare diseases, a resulting reduction in genotyping accuracy in some regions has likely prevented the resolution of some cases. Pangenome graphs embed population...

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Detalles Bibliográficos
Autores principales: Markello, Charles, Huang, Charles, Rodriguez, Alex, Carroll, Andrew, Chang, Pi-Chuan, Eizenga, Jordan, Markello, Thomas, Haussler, David, Paten, Benedict
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9104704/
https://www.ncbi.nlm.nih.gov/pubmed/35483961
http://dx.doi.org/10.1101/gr.276387.121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9104704/
https://www.ncbi.nlm.nih.gov/pubmed/35483961
http://dx.doi.org/10.1101/gr.276387.121

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