Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Nilah Ioannidis"'
Autor:
Milind Jagota, Chengzhong Ye, Carlos Albors, Ruchir Rastogi, Antoine Koehl, Nilah Ioannidis, Yun S. Song
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-19 (2023)
Abstract Background Genetic variation in the human genome is a major determinant of individual disease risk, but the vast majority of missense variants have unknown etiological effects. Here, we present a robust learning framework for leveraging satu
Externí odkaz:
https://doaj.org/article/aa502c3625e54c5291d32d735dded179
Fine-mapping methods, which aim to identify genetic variants responsible for complex traits following genetic association studies, typically assume that sufficient adjustments for confounding within the association study cohort have been made, e.g.,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc961614800f217ee35202f0e3fccda0
https://doi.org/10.1101/2023.04.11.536456
https://doi.org/10.1101/2023.04.11.536456
Autor:
Milind Jagota, Chengzhong Ye, Ruchir Rastogi, Carlos Albors, Antoine Koehl, Nilah Ioannidis, Yun S. Song
Genetic variation in the human genome is a major determinant of individual disease risk, but the vast majority of missense variants have unknown etiological effects. Various computational strategies have been proposed to predict the effects of missen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f5c9a7f35d873c98569f1afd0bed25a
https://doi.org/10.1101/2022.11.15.516532
https://doi.org/10.1101/2022.11.15.516532
Autor:
Nicholas E. Johnson, Nilah Ioannidis, Monkol Lek, Bradley A. Williams, Conrad C. Weihl, Sander Pajusalu, Laura E. Rufibach, Nicole J. Lake, Plavi Mittal, Geyu Zhou, Douglas E. Albrecht, Wei Liu
Publikováno v:
Genetics in Medicine. 21:2512-2520
Limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous category of autosomal inherited muscle diseases. Many genes causing LGMD have been identified, and clinical trials are beginning for treatment of some genetic subtypes. However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b574ed7f14bfcb61ec5d1789db1dda8f
https://doi.org/10.1038/s41436-019-0544-8
https://doi.org/10.1038/s41436-019-0544-8
Autor:
Wei Liu, Sander Pajusalu, Nicole J. Lake, Geyu Zhou, Nilah Ioannidis, Plavi Mittal, Nicholas E. Johnson, Conrad C. Weihl, Bradley A. Williams, Douglas E. Albrecht, Laura E. Rufibach, Monkol Lek
PurposeLimb Girdle Muscular Dystrophies (LGMD) are a genetically heterogeneous category of autosomal inherited muscle diseases. Many genes causing LGMD have been identified, and clinical trials are beginning for treatment of some genetic subtypes. Ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ca8ea586c87385e198ec74493f702cc
https://doi.org/10.1101/502708
https://doi.org/10.1101/502708