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High-Throughput Nucleotide Sequencing

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Artificial Intelligence-Assisted Serial Analysis of Clinical Cancer Genomics Data Identifies Changing Treatment Recommendations and Therapeutic Targets.

Clinical cancer research : an official journal of the American Association for Cancer Research
PURPOSE: Given the pace of predictive biomarker and targeted therapy development, it is unknown whether repeat annotation of the same next-generation sequencing data can identify additional clinically actionable targets that could be therapeutically ...

The COPILOT Raw Illumina Genotyping QC Protocol.

Current protocols
The Illumina genotyping microarrays generate data in image format, which is processed by the platform-specific software GenomeStudio, followed by an array of complex bioinformatics analyses that rely on various software, different programming languag...

DeepMP: a deep learning tool to detect DNA base modifications on Nanopore sequencing data.

Bioinformatics (Oxford, England)
MOTIVATION: DNA methylation plays a key role in a variety of biological processes. Recently, Nanopore long-read sequencing has enabled direct detection of these modifications. As a consequence, a range of computational methods have been developed to ...

Heavy chain sequence-based classifier for the specificity of human antibodies.

Briefings in bioinformatics
Antibodies specifically bind to antigens and are an essential part of the immune system. Hence, antibodies are powerful tools in research and diagnostics. High-throughput sequencing technologies have promoted comprehensive profiling of the immune rep...

A roadmap for multi-omics data integration using deep learning.

Briefings in bioinformatics
High-throughput next-generation sequencing now makes it possible to generate a vast amount of multi-omics data for various applications. These data have revolutionized biomedical research by providing a more comprehensive understanding of the biologi...

Prediction of whole-cell transcriptional response with machine learning.

Bioinformatics (Oxford, England)
MOTIVATION: Applications in synthetic and systems biology can benefit from measuring whole-cell response to biochemical perturbations. Execution of experiments to cover all possible combinations of perturbations is infeasible. In this paper, we prese...

A Method for Localizing Non-Reference Sequences to the Human Genome.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
As the last decade of human genomics research begins to bear the fruit of advancements in precision medicine, it is important to ensure that genomics' improvements in human health are distributed globally and equitably. An important step to ensuring ...

High-performance deep learning pipeline predicts individuals in mixtures of DNA using sequencing data.

Briefings in bioinformatics
In this study, we proposed a deep learning (DL) model for classifying individuals from mixtures of DNA samples using 27 short tandem repeats and 94 single nucleotide polymorphisms obtained through massively parallel sequencing protocol. The model was...

DISMIR: Deep learning-based noninvasive cancer detection by integrating DNA sequence and methylation information of individual cell-free DNA reads.

Briefings in bioinformatics
Detecting cancer signals in cell-free DNA (cfDNA) high-throughput sequencing data is emerging as a novel noninvasive cancer detection method. Due to the high cost of sequencing, it is crucial to make robust and precise predictions with low-depth cfDN...