AIMC Topic: High-Throughput Nucleotide Sequencing

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Polishing copy number variant calls on exome sequencing data via deep learning.

Genome research
Accurate and efficient detection of copy number variants (CNVs) is of critical importance owing to their significant association with complex genetic diseases. Although algorithms that use whole-genome sequencing (WGS) data provide stable results wit...

Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis.

Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE: The study aimed to determine the diagnostic yield, optimal timing, and methodology of next generation sequencing data reanalysis in suspected Mendelian disorders.

Compare the performance of multiple binary classification models in microbial high-throughput sequencing datasets.

The Science of the total environment
The development of machine learning and deep learning provided solutions for predicting microbiota response on environmental change based on microbial high-throughput sequencing. However, there were few studies specifically clarifying the performance...

Artificial intelligence to identify genetic alterations in conventional histopathology.

The Journal of pathology
Precision oncology relies on the identification of targetable molecular alterations in tumor tissues. In many tumor types, a limited set of molecular tests is currently part of standard diagnostic workflows. However, universal testing for all targeta...

Artificial Intelligence Technologies for COVID-19 De Novo Drug Design.

International journal of molecular sciences
The recent covid crisis has provided important lessons for academia and industry regarding digital reorganization. Among the fascinating lessons from these times is the huge potential of data analytics and artificial intelligence. The crisis exponent...

Machine Learning Predictability of Clinical Next Generation Sequencing for Hematologic Malignancies to Guide High-Value Precision Medicine.

AMIA ... Annual Symposium proceedings. AMIA Symposium
Advancing diagnostic testing capabilities such as clinical next generation sequencing methods offer the potential to diagnose, risk stratify, and guide specialized treatment, but must be balanced against the escalating costs of healthcare to identify...

Machine learning models for accurate prioritization of variants of uncertain significance.

Human mutation
The growing use of next-generation sequencing technologies on genetic diagnosis has produced an exponential increase in the number of variants of uncertain significance (VUS). In this manuscript, we compare three machine learning methods to classify ...

High-throughput screening, next generation sequencing and machine learning: advanced methods in enzyme engineering.

Chemical communications (Cambridge, England)
Enzyme engineering is an important biotechnological process capable of generating tailored biocatalysts for applications in industrial chemical conversion and biopharma. Typical enhancements sought in enzyme engineering and evolution campaigns inclu...

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.

Scientific reports
Genomic variant interpretation is a critical step of the diagnostic procedure, often supported by the application of tools that may predict the damaging impact of each variant or provide a guidelines-based classification. We propose the application o...