Machine learning in rare disease

J Banerjee, JN Taroni, RJ Allaway, DV Prasad… - Nature …, 2023 - nature.com
High-throughput profiling methods (such as genomics or imaging) have accelerated basic
research and made deep molecular characterization of patient samples routine. These …

[HTML][HTML] A multifaceted benchmarking of synthetic electronic health record generation models

C Yan, Y Yan, Z Wan, Z Zhang, L Omberg… - Nature …, 2022 - nature.com
Synthetic health data have the potential to mitigate privacy concerns in supporting
biomedical research and healthcare applications. Modern approaches for data generation …

Technology platforms and approaches for building and evaluating machine learning methods in Healthcare

SD Mooney - The journal of applied laboratory medicine, 2023 - academic.oup.com
Background Artificial intelligence (AI) methods are becoming increasingly commonly
implemented in healthcare as decision support, business intelligence tools, or, in some …

[HTML][HTML] Machine learning methods to predict 30-day hospital readmission outcome among US adults with pneumonia: analysis of the national readmission database

Y Huang, A Talwar, Y Lin, RR Aparasu - BMC Medical Informatics and …, 2022 - Springer
Background Hospital readmissions for pneumonia are a growing concern in the US, with
significant consequences for costs and quality of care. This study developed the rule-based …

[HTML][HTML] Fib-4 score is able to predict intra-hospital mortality in 4 different SARS-COV2 waves

L Miele, M Dajko, MC Savino, ND Capocchiano… - Internal and Emergency …, 2023 - Springer
Increased values of the FIB-4 index appear to be associated with poor clinical outcomes in
COVID-19 patients. This study aimed to develop and validate predictive mortality models …

Public Health Informatics and the Perioperative Physician: Looking to the Future

SC Mudumbai, RA Gabriel, S Howell… - Anesthesia & …, 2024 - journals.lww.com
The role of informatics in public health has increased over the past few decades, and the
coronavirus disease 2019 (COVID-19) pandemic has underscored the critical importance of …

[HTML][HTML] RApid Throughput Screening for Asymptomatic COVID-19 Infection With an Electrocardiogram: A Prospective Observational Study

D Adedinsewo, J Dugan, PW Johnson… - Mayo Clinic …, 2023 - Elsevier
Objective To evaluate the ability of a neural network to identify severe acute respiratory
syndrome coronavirus 2 (SARS-CoV-2) infection using point-of-care electrocardiography …

[图书][B] A Model-to-data Approach for Building Accurate Machine Learning Algorithms on EHR Data

Y Yan - 2022 - search.proquest.com
Over the past few decades, information about patients' diagnoses, medication, and
procedures has been collected and transformed into standardized and shareable electronic …

The NLP Sandbox: an efficient model-to-data system to enable federated and unbiased evaluation of clinical NLP models

Y Yan, T Yu, K Muenzen, S Liu, C Boyle… - arXiv preprint arXiv …, 2022 - arxiv.org
Objective The evaluation of natural language processing (NLP) models for clinical text de-
identification relies on the availability of clinical notes, which is often restricted due to privacy …

[HTML][HTML] Computational interpretation of human genetic variation

Y Bromberg, P Radivojac - Human Genetics, 2022 - Springer
Computational interpretation of human genetic variants comprises the development and
application of analysis and prediction techniques aimed at elucidating the impact of variants …