Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kyoungyeul Lee"'
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-14 (2024)
Abstract Background In the process of finding the causative variant of rare diseases, accurate assessment and prioritization of genetic variants is essential. Previous variant prioritization tools mainly depend on the in-silico prediction of the path
Externí odkaz:
https://doaj.org/article/bcefd9676d8d49719d8baea45c84db19
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Infantile cerebellar-retinal degeneration (ICRD) is an extremely rare, infantile-onset neuro-degenerative disease, characterized by autosomal recessive inherited, global developmental delay (GDD), progressive cerebellar and cortical atrophy, and reti
Externí odkaz:
https://doaj.org/article/14a62eda58b5405284b6723282aaccb2
Publikováno v:
BMC Bioinformatics, Vol 18, Iss S16, Pp 75-86 (2017)
Abstract Background The identification of target molecules is important for understanding the mechanism of “target deconvolution” in phenotypic screening and “polypharmacology” of drugs. Because conventional methods of identifying targets req
Externí odkaz:
https://doaj.org/article/f3b32005528e4f61b9eddbdd238ecd05
BackgroundIn the process of finding the causative variant of rare diseases (RD), accurate assessment and prioritization of genetic variants is essential. Although quality control (QC) of genetic variants is strictly performed, the presence of artefac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d297d3e13dec2073ac195114aeb5f446
https://doi.org/10.1101/2022.10.12.511857
https://doi.org/10.1101/2022.10.12.511857
Publikováno v:
Bioinformatics
Motivation Improvements in next-generation sequencing have enabled genome-based diagnosis for patients with genetic diseases. However, accurate interpretation of human variants requires knowledge from a number of clinical cases. In addition, manual a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5750ae69279fb628fc78b3c3fe1f47
https://doi.org/10.1093/bioinformatics/btab529
https://doi.org/10.1093/bioinformatics/btab529
Autor:
Dhong-gun Won, Kyoungyeul Lee
Thanks to the improvement of Next Generation Sequencing (NGS), genome-based diagnosis for rare disease patients become possible. However, accurate interpretation of human variants requires massive amount of knowledge gathered from previous researches
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d270865ec307622c0e9f64c385af4123
https://doi.org/10.1101/2020.09.27.302927
https://doi.org/10.1101/2020.09.27.302927
Fitting model scores to the estimated probabilities. It contains mathematical expression used to fit a graph of log-scaled score versus estimated probability to the sigmoid function. (PDF 235Â kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b8564123770edc07efdfcd055bd4e56