Transcript expression-aware annotation improves rare variant interpretation

The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A notable example of this challenge is the existence of disruptive variants in dosa...

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Bibliografiset tiedot
Julkaisussa:Nature
Päätekijät: Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2020
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7334198/
https://ncbi.nlm.nih.gov/pubmed/32461655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41586-020-2329-2
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