Conference Paper/Proceeding/Abstract 36 views
AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation
Matt Ploszajski,
Mohsen Ali Asgari,
William Griffiths 
,
Yuqin Wang ,
Gary Tam ,
Xianghua Xie
,
Yuqin Wang ,
Gary Tam ,
Xianghua Xie
Swansea University Authors:
Matt Ploszajski, Mohsen Ali Asgari, William Griffiths , Yuqin Wang , Gary Tam , Xianghua Xie
Abstract
AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa72038 |
| first_indexed |
2026-06-10T08:55:56Z |
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| last_indexed |
2026-06-12T09:28:45Z |
| id |
cronfa72038 |
| recordtype |
SURis |
| fullrecord |
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For the purpose of open access the authors have applied a Creative Commons Attri-
bution (CC BY) license to any Author Accepted Manuscript version arising from this
submission. The research is jointly funded by Amicus Therapeutics and the Engineer-
ing the Physical Sciences Research Council. The data was collected with funding from
the UK Medical Research Council and Biotechnology and Biological Sciences Research
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| spelling |
2026-06-10T09:56:36.7113657 v2 72038 2026-06-10 AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation 3b23b044c227c0089ee6115278863e85 Matt Ploszajski Matt Ploszajski true false 58bf75dabf1a8c8d58eda61b305d3cfd Mohsen Ali Asgari Mohsen Ali Asgari true false 3316b1d1b524be1831790933eed1c26e 0000-0002-4129-6616 William Griffiths William Griffiths true false c92729b58622f9fdf6a0e7d8f4ce5081 0000-0002-3063-3066 Yuqin Wang Yuqin Wang true false e75a68e11a20e5f1da94ee6e28ff5e76 0000-0001-7387-5180 Gary Tam Gary Tam true false b334d40963c7a2f435f06d2c26c74e11 0000-0002-2701-8660 Xianghua Xie Xianghua Xie true false 2026-06-10 MACS Conference Paper/Proceeding/Abstract 0 0 0 0001-01-01 COLLEGE NANME Mathematics and Computer Science School COLLEGE CODE MACS Swansea University Not Required This work was funded by EPSRC grant number EP/S021892/1. For the purpose of open access the authors have applied a Creative Commons Attri- bution (CC BY) license to any Author Accepted Manuscript version arising from this submission. The research is jointly funded by Amicus Therapeutics and the Engineer- ing the Physical Sciences Research Council. The data was collected with funding from the UK Medical Research Council and Biotechnology and Biological Sciences Research Council. 2026-06-10T09:56:36.7113657 2026-06-10T09:52:53.8827203 Faculty of Science and Engineering School of Mathematics and Computer Science - Computer Science Matt Ploszajski 1 Mohsen Ali Asgari 2 William Griffiths 0000-0002-4129-6616 3 Yuqin Wang 0000-0002-3063-3066 4 Gary Tam 0000-0001-7387-5180 5 Xianghua Xie 0000-0002-2701-8660 6 |
| title |
AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation |
| spellingShingle |
AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation Matt Ploszajski Mohsen Ali Asgari William Griffiths Yuqin Wang Gary Tam Xianghua Xie |
| title_short |
AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation |
| title_full |
AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation |
| title_fullStr |
AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation |
| title_full_unstemmed |
AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation |
| title_sort |
AI-Assisted Rare Metabolic Disease Screening from Targeted LC-HR-MS: A Human-in-the-Loop Pipeline with Synthetic Data Augmentation |
| author_id_str_mv |
3b23b044c227c0089ee6115278863e85 58bf75dabf1a8c8d58eda61b305d3cfd 3316b1d1b524be1831790933eed1c26e c92729b58622f9fdf6a0e7d8f4ce5081 e75a68e11a20e5f1da94ee6e28ff5e76 b334d40963c7a2f435f06d2c26c74e11 |
| author_id_fullname_str_mv |
3b23b044c227c0089ee6115278863e85_***_Matt Ploszajski 58bf75dabf1a8c8d58eda61b305d3cfd_***_Mohsen Ali Asgari 3316b1d1b524be1831790933eed1c26e_***_William Griffiths c92729b58622f9fdf6a0e7d8f4ce5081_***_Yuqin Wang e75a68e11a20e5f1da94ee6e28ff5e76_***_Gary Tam b334d40963c7a2f435f06d2c26c74e11_***_Xianghua Xie |
| author |
Matt Ploszajski Mohsen Ali Asgari William Griffiths Yuqin Wang Gary Tam Xianghua Xie |
| author2 |
Matt Ploszajski Mohsen Ali Asgari William Griffiths Yuqin Wang Gary Tam Xianghua Xie |
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Conference Paper/Proceeding/Abstract |
| institution |
Swansea University |
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Faculty of Science and Engineering |
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Faculty of Science and Engineering |
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facultyofscienceandengineering |
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Faculty of Science and Engineering |
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School of Mathematics and Computer Science - Computer Science{{{_:::_}}}Faculty of Science and Engineering{{{_:::_}}}School of Mathematics and Computer Science - Computer Science |
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0001-01-01T06:02:54Z |
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11.109323 |