Hypothesis-free phenotype prediction within a genetics-first framework

Cohort-wide sequencing studies have revealed that the largest category of variants is those deemed ‘rare’, even for the subset located in coding regions (99% of known coding variants are seen in less than 1% of the population. Associative methods give some understanding how rare genetic variants inf...

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Detalles Bibliográficos
Autores principales: Lu, Chang, Zaucha, Jan, Gam, Rihab, Fang, Hai, Ben Smithers, Oates, Matt E., Bernabe-Rubio, Miguel, Williams, James, Zelenka, Natalie, Pandurangan, Arun Prasad, Tandon, Himani, Shihab, Hashem, Kalaivani, Raju, Sung, Minkyung, Sardar, Adam J., Tzovoras, Bastian Greshake, Danovi, Davide, Gough, Julian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938118/
https://www.ncbi.nlm.nih.gov/pubmed/36808136
http://dx.doi.org/10.1038/s41467-023-36634-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938118/
https://www.ncbi.nlm.nih.gov/pubmed/36808136
http://dx.doi.org/10.1038/s41467-023-36634-6

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