Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease

Although thousands of genomic regions have been associated with heritable human diseases, attempts to elucidate biological mechanisms are impeded by a general inability to discern which genomic positions are functionally important. Evolutionary constraint is a powerful predictor of function that is...

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Detalles Bibliográficos
Autores principales: Sullivan, Patrick F., Meadows, Jennifer R. S., Gazal, Steven, Phan, BaDoi N., Li, Xue, Genereux, Diane P., Dong, Michael X., Bianchi, Matteo, Andrews, Gregory, Sakthikumar, Sharadha, Nordin, Jessika, Roy, Ananya, Christmas, Matthew J., Marinescu, Voichita D., Wallerman, Ola, Xue, James R., Li, Yun, Yao, Shuyang, Sun, Quan, Szatkiewicz, Jin, Wen, Jia, Huckins, Laura M., Lawler, Alyssa J., Keough, Kathleen C., Zheng, Zhili, Zeng, Jian, Wray, Naomi R., Johnson, Jessica, Chen, Jiawen, Paten, Benedict, Reilly, Steven K., Hughes, Graham M., Weng, Zhiping, Pollard, Katherine S., Pfenning, Andreas R., Forsberg-Nilsson, Karin, Karlsson, Elinor K., Lindblad-Toh, Kerstin
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/PMC10028973/
https://www.ncbi.nlm.nih.gov/pubmed/36945512
http://dx.doi.org/10.1101/2023.03.10.531987

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