Inferring compound heterozygosity from large-scale exome sequencing data

Recessive diseases arise when both the maternal and the paternal copies of a gene are impacted by a damaging genetic variant in the affected individual. When a patient carries two different potentially causal variants in a gene for a given disorder, accurate diagnosis requires determining that these...

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Detalles Bibliográficos
Autores principales: Guo, Michael H., Francioli, Laurent C., Stenton, Sarah L., Goodrich, Julia K., Watts, Nicholas A., Singer-Berk, Moriel, Groopman, Emily, Darnowsky, Philip W., Solomonson, Matthew, Baxter, Samantha, Tiao, Grace, Neale, Benjamin M., Hirschhorn, Joel N., Rehm, Heidi L., Daly, Mark J., O’Donnell-Luria, Anne, Karczewski, Konrad J., MacArthur, Daniel G., Samocha, Kaitlin E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055215/
https://www.ncbi.nlm.nih.gov/pubmed/36993580
http://dx.doi.org/10.1101/2023.03.19.533370

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