Genetics

Latest AI and machine learning research in genetics for healthcare professionals.

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Sample Size Requirements for Machine Learning Classification of Binary Outcomes in Bulk RNA-Seq Data

Bulk RNA sequencing data is often leveraged to build machine learning (ML)-based predictive models f...

Data-driven modelling of tau pathology reveals distinct progressive supranuclear palsy subtypes

Progressive supranuclear palsy (PSP) is a heterogeneous neurodegenerative disease characterised by t...

Concordant and discordant gene expression signatures of twin placentas in the setting of preeclampsia

Multifetal pregnancies are associated with increased risk for preeclampsia (PreE), but the underlyin...

Acute myeloid leukemia risk stratification in younger and older patients through transcriptomic machine learning models

Acute Myeloid Leukemia (AML) is a genetically and clinically heterogeneous disease that can develop ...

LLM-based data extraction for a large cancer registry, the Ontario Hereditary Cancer Research Network

Manual data extraction from genomic lab reports for on-line registries and databases is time-consumi...

Analysis of Genome-Wide Cell-Free DNA Fragment Length Distributions in Colorectal Cancer

Each piece of cell-free DNA (cfDNA) has a length determined by the exact metabolic conditions in the...

Whole-genome sequencing analysis of left ventricular structure and sphericity in 80,000 people

Sphericity is a measurement of how closely an object approximates a globe. The sphericity of the blo...

Multi-organ AI Endophenotypes Chart the Heterogeneity of Pan-disease in the Brain, Eye, and Heart

Disease heterogeneity and commonality pose significant challenges to precision medicine, as traditio...

Integration of Gene Expression and Digital Histology to Predict Treatment-Specific Responses in Breast Cancer

Deep learning models applied to digital histology can predict gene expression signatures (GES) and o...

Epigenetic patient stratification reveals a sub-endotype of type 2 asthma with altered B-cell response

Despite biomarker-guided treatment strategies, clinical outcomes among patients with type 2 (T2)-hig...

MyGESig: a population-specific gene signature improves survival prediction in Malaysian breast cancer patients

Accurate prognostic models are essential for guiding treatment decisions and improving patient outco...

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panels

Anophthalmia and microphthalmia (A/M) are rare congenital eye disorders with a low molecular diagnos...

Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies

Rare genetic aortopathies are frequently undiagnosed due to phenotypic heterogeneity, and delayed di...

Aligning computational pathology with clinical practice for colorectal cancer

Pathology reporting of colorectal cancer (CRC) follows the International Collaboration on Cancer Rep...

From Sequences to Strategies: Early Detection of New SARS-CoV-2 Variants via Genetic Distance to Reduce Hospitalizations

The COVID-19 pandemic highlighted the critical need for robust methods to monitor viral evolution an...

Scalable Deep Learning of Histology Images Reveals Genetic and Phenotypic Determinants of Adipocyte Hypertrophy

White adipose tissue dysfunction has emerged as a critical factor in cardiometabolic disease develop...

Advancing Human Population Genomics with DNA Foundation Models

DNA foundation models offer a new approach to interpret genetic variation, but their potential in po...

VarDrug: A Machine Learning Approach for Variant-Drug Interaction, Application to Drugs for Psychiatric Disorders

Predicting variant-drug interactions is essential for advancing precision medicine across therapeuti...

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