Genetics

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

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Showing 8002-8022 of 11,255 articles
Data-driven consideration of genetic disorders for global genomic newborn screening programs

Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of geneti...

Genetic variants risk assessment for Long QT Syndrome through machine learning and multielectrode array recordings

Long QT syndrome (LQTS) is a life-threatening genetic disorder characterized by prolonged QT interva...

Establishment of in silico prediction of adjuvant chemotherapy response from active mitotic gene signature in non-small cell lung cancer

Conventional chemotherapeutics exploit cancer’s hallmark of active cell cycling, primarily targeting...

Pan-Omics Fusion and Machine Learning Unveil Congenital Tooth Agenesis-Ecto-mesodermal Diseases Link and Biomarker Discovery

Congenital tooth agenesis (CTA) is a common developmental anomaly with complex genetic and molecular...

Analysis of genetic overlap between inborn errors of immunity and neurodevelopmental disorders

Inborn errors of immunity (IEI), formerly known as primary immune deficiencies (PID), are a group of...

Genetic Architecture and Risk Prediction of Gestational Diabetes Mellitus in over 116,144 Chinese Pregnancies

Gestational diabetes mellitus (GDM), a heritable metabolic disorder and the most common pregnancy-re...

Encoding of pretrained large language models mirrors the genetic architectures of human psychological traits

Recent advances in large language models (LLMs) have prompted a frenzy in utilizing them as universa...

Evaluating Genetic-Based Disease Prediction Approaches Through Simulation

Common diseases exhibit substantial heritability, and GWAS of these diseases have revealed hundreds ...

An Actor-Critic Reinforcement Learning Framework for Variant Evidence Interpretation

We present a reinforcement learning (RL) framework that uses established genomic metrics – such as t...

Large language models identify causal genes in complex trait GWAS

Identifying causal genes at genome-wide association study (GWAS) loci remains a major challenge. Lit...

CNNeoPP: A Deep Learning Pipeline for Personalized Neoantigen Prediction and Liquid Biopsy Applications

Neoantigens have emerged as promising targets for personalized cancer immunotherapy. However, accura...

NTDscope: A multi-contrast portable microscope for disease diagnosis

Accurate diagnostics are essential for disease control and elimination efforts. However, access to d...

Detection of patient metadata in published articles for genomic epidemiology using machine learning and large language models

Patient metadata exist in published articles, but are often dis-connected from genome sequences in d...

Biological sex affects gene expression and functional variation across the human genome

Humans display sexual dimorphism across many traits, but little is known about underlying genetic me...

Predicting Survivability of Cancer Patients with Metastatic Patterns Using Explainable AI

Cancer remains a leading global health challenge and a major cause of mortality. This study leverage...

Early Detection of Autism Spectrum Disorder in Children Using Different Machine Learning Algorithms

Autism spectrum disorder(ASD) is a neurological condition marked by impaired communication abilities...

The gSOS Polygenic Score is Associated with Bone Density and Fracture Risk in Childhood

The polygenic risk score genetic quantitative ultrasound speed of sound (gSOS) was developed using m...

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