Mitochondrial DNA variation across 56,434 individuals in gnomAD

Genomic databases of allele frequency are extremely helpful for evaluating clinical variants of unknown significance; however, until now, databases such as the Genome Aggregation Database (gnomAD) have focused on nuclear DNA and have ignored the mitochondrial genome (mtDNA). Here, we present a pipel...

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Detalles Bibliográficos
Autores principales: Laricchia, Kristen M., Lake, Nicole J., Watts, Nicholas A., Shand, Megan, Haessly, Andrea, Gauthier, Laura, Benjamin, David, Banks, Eric, Soto, Jose, Garimella, Kiran, Emery, James, Rehm, Heidi L., MacArthur, Daniel G., Tiao, Grace, Lek, Monkol, Mootha, Vamsi K., Calvo, Sarah E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Resource
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896463/
https://www.ncbi.nlm.nih.gov/pubmed/35074858
http://dx.doi.org/10.1101/gr.276013.121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896463/
https://www.ncbi.nlm.nih.gov/pubmed/35074858
http://dx.doi.org/10.1101/gr.276013.121

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