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High-Throughput Nucleotide Sequencing

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Symphonizing pileup and full-alignment for deep learning-based long-read variant calling.

Nature computational science
Deep learning-based variant callers are becoming the standard and have achieved superior single nucleotide polymorphisms calling performance using long reads. Here we present Clair3, which leverages two major method categories: pileup calling handles...

Deep-learning-assisted Sort-Seq enables high-throughput profiling of gene expression characteristics with high precision.

Science advances
Owing to the nondeterministic and nonlinear nature of gene expression, the steady-state intracellular protein abundance of a clonal population forms a distribution. The characteristics of this distribution, including expression strength and noise, ar...

Generating bulk RNA-Seq gene expression data based on generative deep learning models and utilizing it for data augmentation.

Computers in biology and medicine
Large-scale high-throughput transcriptome sequencing data holds significant value in biomedical research. However, practical challenges such as difficulty in sample acquisition often limit the availability of large sample sizes, leading to decreased ...

Performance analysis of conventional and AI-based variant callers using short and long reads.

BMC bioinformatics
BACKGROUND: The accurate detection of variants is essential for genomics-based studies. Currently, there are various tools designed to detect genomic variants, however, it has always been a challenge to decide which tool to use, especially when vario...

Language model-based B cell receptor sequence embeddings can effectively encode receptor specificity.

Nucleic acids research
High throughput sequencing of B cell receptors (BCRs) is increasingly applied to study the immense diversity of antibodies. Learning biologically meaningful embeddings of BCR sequences is beneficial for predictive modeling. Several embedding methods ...

A signal processing and deep learning framework for methylation detection using Oxford Nanopore sequencing.

Nature communications
Oxford Nanopore sequencing can detect DNA methylations from ionic current signal of single molecules, offering a unique advantage over conventional methods. Additionally, adaptive sampling, a software-controlled enrichment method for targeted sequenc...

MAC-ErrorReads: machine learning-assisted classifier for filtering erroneous NGS reads.

BMC bioinformatics
BACKGROUND: The rapid advancement of next-generation sequencing (NGS) machines in terms of speed and affordability has led to the generation of a massive amount of biological data at the expense of data quality as errors become more prevalent. This i...

Revolutionizing Synthetic Antibody Design: Harnessing Artificial Intelligence and Deep Sequencing Big Data for Unprecedented Advances.

Molecular biotechnology
Synthetic antibodies (Abs) represent a category of engineered proteins meticulously crafted to replicate the functions of their natural counterparts. Such Abs are generated in vitro, enabling advanced molecular alterations associated with antigen rec...

An Information Fusion System-Driven Deep Neural Networks With Application to Cancer Mortality Risk Estimate.

IEEE transactions on neural networks and learning systems
Next-generation sequencing (NGS) genomic data offer valuable high-throughput genomic information for computational applications in medicine. Using genomic data to identify disease-associated genes to estimate cancer mortality risk remains challenging...