output
20202026
most citedVariant interpretation using population databases: lessons from gnomAD

718 citations

7 papers

cs.AI2026

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…

q-bio.NC2025★ 119 cited

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…

eess.SP2023★ 103 cited

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…

q-bio.GN2021★ 718 cited

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…

physics.ins-det2021★ 9 cited

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…

q-bio.QM2020★ 82 cited

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…