Genetics

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

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Active learning for efficient discovery of optimal gene combinations in the combinatorial perturbation space

The advancement of novel combinatorial CRISPR screening technologies enables the identification of...

gpuPairHMM: High-speed Pair-HMM Forward Algorithm for DNA Variant Calling on GPUs

The continually increasing volume of DNA sequence data has resulted in a growing demand for fast i...

A Modular Open Source Framework for Genomic Variant Calling

Variant calling is a fundamental task in genomic research, essential for detecting genetic variati...

Leveraging genomic deep learning models for non-coding variant effect prediction

The majority of genetic variants identified in genome-wide association studies of complex traits a...

Comparative genomics with succinct colored de Bruijn graphs

DNA technologies have evolved significantly in the past years enabling the sequencing of a large n...

DBgDel: Database-Enhanced Gene Deletion Framework for Growth-Coupled Production in Genome-Scale Metabolic Models

When simulating metabolite productions with genome-scale constraint-based metabolic models, gene d...

Kernel-based retrieval models for hyperspectral image data optimized with Kernel Flows

Kernel-based statistical methods are efficient, but their performance depends heavily on the selec...

Modeling variable guide efficiency in pooled CRISPR screens with ContrastiveVI+

Genetic screens mediated via CRISPR-Cas9 combined with high-content readouts have emerged as power...

MimIR: An Extensible and Type-Safe Intermediate Representation for the DSL Age

Traditional compilers, designed for optimizing low-level code, fall short when dealing with modern...

White-Box Diffusion Transformer for single-cell RNA-seq generation

As a powerful tool for characterizing cellular subpopulations and cellular heterogeneity, single c...

m6A-related genes and their role in Parkinson's disease: Insights from machine learning and consensus clustering.

Parkinson disease (PD) is a chronic neurological disorder primarily characterized by a deficiency of...

Nov 2024 39533574
Integrating Large Language Models for Genetic Variant Classification

The classification of genetic variants, particularly Variants of Uncertain Significance (VUS), pos...

Perspective on recent developments and challenges in regulatory and systems genomics

Predicting how genetic variation affects phenotypic outcomes at the organismal, cellular, and mole...

Safe Paths and Sequences for Scalable ILPs in RNA Transcript Assembly Problems

A common step at the core of many RNA transcript assembly tools is to find a set of weighted paths...

Accelerating DNA Read Mapping with Digital Processing-in-Memory

Genome analysis has revolutionized fields such as personalized medicine and forensics. Modern sequ...

Sub-sampling graph neural networks for genomic prediction of quantitative phenotypes.

In genomics, use of deep learning (DL) is rapidly growing and DL has successfully demonstrated its a...

Nov 2024 39250757
Revisiting K-mer Profile for Effective and Scalable Genome Representation Learning

Obtaining effective representations of DNA sequences is crucial for genome analysis. Metagenomic b...

Closing the complexity gap of the double distance problem

Genome rearrangement has been an active area of research in computational comparative genomics for...

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