De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose impact is relevant to studies of human evolution, genetics, and disease. Utilizing high-coverage whole-genome sequencing data as part of the...

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Detalles Bibliográficos
Autores principales: Kessler, Michael D., Loesch, Douglas P., Perry, James A., Heard-Costa, Nancy L., Taliun, Daniel, Cade, Brian E., Wang, Heming, Daya, Michelle, Ziniti, John, Datta, Soma, Celedón, Juan C., Soto-Quiros, Manuel E., Avila, Lydiana, Weiss, Scott T., Barnes, Kathleen, Redline, Susan S., Vasan, Ramachandran S., Johnson, Andrew D., Mathias, Rasika A., Hernandez, Ryan, Wilson, James G., Nickerson, Deborah A., Abecasis, Goncalo, Browning, Sharon R., Zöllner, Sebastian, O’Connell, Jeffrey R., Mitchell, Braxton D., O’Connor, Timothy D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2020
Materias:
PNAS Plus
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007577/
https://www.ncbi.nlm.nih.gov/pubmed/31964835
http://dx.doi.org/10.1073/pnas.1902766117

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