Transcriptomic signatures across human tissues identify functional rare genetic variation

Rare genetic variants are abundant across the human genome, and identifying their function and phenotypic impact is a major challenge. Measuring aberrant gene expression has aided in identifying functional, large-effect rare variants (RVs). Here, we expanded detection of genetically driven transcrip...

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Publicado no:Science
Main Authors: Ferraro, Nicole M., Strober, Benjamin J., Einson, Jonah, Abell, Nathan S., Aguet, Francois, Barbeira, Alvaro N., Brandt, Margot, Bucan, Maja, Castel, Stephane E., Davis, Joe R., Greenwald, Emily, Hess, Gaelen T., Hilliard, Austin T., Kember, Rachel L., Kotis, Bence, Park, YoSon, Peloso, Gina, Ramdas, Shweta, Scott, Alexandra J., Smail, Craig, Tsang, Emily K., Zekavat, Seyedeh M., Ziosi, Marcello, Aradhana, Ardlie, Kristin G., Assimes, Themistocles L., Bassik, Michael C., Brown, Christopher D., Correa, Adolfo, Hall, Ira, Im, Hae Kyung, Li, Xin, Natarajan, Pradeep, Lappalainen, Tuuli, Mohammadi, Pejman, Montgomery, Stephen B., Battle, Alexis
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7646251/
https://ncbi.nlm.nih.gov/pubmed/32913073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aaz5900
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