Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mayur Pawashe"'
Autor:
Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, Patrick McGillivray, Mike Jin, Jeremy Liu, Konrad J. Karczewski, Daniel G. MacArthur, Mark Gerstein
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Variants causing loss of function (LoF) of human genes have clinical implications. Here, the authors present a method to predict disease-causing potential of LoF variants, ALoFT (annotation of Loss-of-Function Transcripts) and show its application to
Externí odkaz:
https://doaj.org/article/fa612e5114724713a9157e555a8858b1
Autor:
Robert R. Kitchen, Mark Gerstein, Patrick McGillivray, Russell Ault, Suganthi Balasubramanian, Mayur Pawashe
Publikováno v:
Nucleic Acids Research
Upstream open reading frames (uORFs) latent in mRNA transcripts are thought to modify translation of coding sequences by altering ribosome activity. Not all uORFs are thought to be active in such a process. To estimate the impact of uORFs on the regu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93c30d3219699575e89c9aa5e1c5916
https://doi.org/10.1093/nar/gky188
https://doi.org/10.1093/nar/gky188
Autor:
Yao Fu, Mike Jin, Mark Gerstein, Patrick McGillivray, Mayur Pawashe, Konrad J. Karczewski, Daniel G. MacArthur, Suganthi Balasubramanian, Jeremy Liu
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature Communications
Nature Communications
Variants predicted to result in the loss of function of human genes have attracted interest because of their clinical impact and surprising prevalence in healthy individuals. Here, we present ALoFT (annotation of loss-of-function transcripts), a meth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cddf145ca72dc9fffda3d64e04bf019b
https://doi.org/10.1038/s41467-017-00443-5
https://doi.org/10.1038/s41467-017-00443-5
Autor:
Mike Jin, Suganthi Balasubramanian, Mark Gerstein, Konrad J. Karczewski, Yao Fu, Jeremy Liu, Daniel G. MacArthur, Patrick McGillivray, Mayur Pawashe
Variants predicted to result in the loss of function (LoF) of human genes have attracted interest because of their clinical impact and surprising prevalence in healthy individuals. Here, we present ALoFT (Annotation of Loss-of-Function Transcripts),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f63bc884487b028f2b6e5861498b6a
