718 citations
Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.
- The University of SydneyAU4 papers
- UNSW SydneyAU4 papers
- Massachusetts General HospitalUS3 papers
- Boston Children's HospitalUS2 papers
- Gopalganj Science and Technology UniversityBD2 papers
- Harvard UniversityUS2 papers
- Jatiya Kabi Kazi Nazrul Islam UniversityBD2 papers
- St Vincent's ClinicAU2 papers
- The University of QueenslandAU2 papers
- University of CambridgeGB2 papers
- Aarhus University HospitalDK1 paper
- Ain Shams University HospitalEG1 paper
8 papers
Beyond the Basics: Leveraging Large Language Model for Fine-Grained Medical Entity Recognition
Nwe Ni Win, Jim Basilakis, Steven Thomas +6
Extracting clinically relevant information from unstructured medical narratives such as admission notes, discharge summaries, and emergency case histories remains a challenge in cl…
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin +112
Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feat…
HARDC : A novel ECG-based heartbeat classification method to detect arrhythmia using hierarchical attention based dual structured RNN with dilated CNN
Md Shofiqul Islam, Khondokar Fida Hasan, Sunjida Sultana +4
In this paper have developed a novel hybrid hierarchical attention-based bidirectional recurrent neural network with dilated CNN (HARDC) method for arrhythmia classification. This…
Variant interpretation using population databases: lessons from gnomAD
Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A. Watts +7
Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variati…
Particle detection and tracking with DNA
Ciaran A. J. O'Hare, Vassili G. Matsos, Joseph Newton +8
We present the first proof-of-concept simulations of detectors using biomaterials to detect particle interactions. The essential idea behind a "DNA detector" involves the attachmen…
Predicting Patient COVID-19 Disease Severity by means of Statistical and Machine Learning Analysis of Blood Cell Transcriptome Data
Sakifa Aktar, Md. Martuza Ahamad, Md. Rashed-Al-Mahfuz +9
Introduction: For COVID-19 patients accurate prediction of disease severity and mortality risk would greatly improve care delivery and resource allocation. There are many patient-r…
Machine Learning and Meta-Analysis Approach to Identify Patient Comorbidities and Symptoms that Increased Risk of Mortality in COVID-19
Sakifa Aktar, Ashis Talukder, Md. Martuza Ahamad +9
Background: Providing appropriate care for people suffering from COVID-19, the disease caused by the pandemic SARS-CoV-2 virus is a significant global challenge. Many individuals w…
BayMeth: Improved DNA methylation quantification for affinity capture sequencing data using a flexible Bayesian approach
Andrea Riebler, Mirco Menigatti, Jenny Z. Song +6
DNA methylation (DNAme) is a critical component of the epigenetic regulatory machinery and aberrations in DNAme patterns occur in many diseases, such as cancer. Mapping and underst…