Medical Xpress

Machine learning algorithm brings long-read sequencing to the clinic

Long-read sequencing technologies analyze long, continuous stretches of DNA. These methods have the potential to improve researchers' ability to detect complex genetic alterations in cancer genomes.
GEN

Integrative Exome Sequencing and Machine Learning Identify New Genes Contributing to Systemic Sclerosis Risk

Scientists at the Baylor College of Medicine and collaborating institutions used complementary approaches that integrate exome sequencing and evolutionary action machine learning to identify protein ...
Labroots

The Advantage of Combining Short Read Whole Genome Sequencing, Optical Genome Mapping and Transcriptome Analysis in Constitutional and Cancer Diagnostics

Genomic testing based on chromosome microarray (CMA) and Next Generation Sequencing (NGS) revolutionized clinical genetics. That said, microarray, targeted panel, exome and generic whole genome ...
Medical Xpress

Integrative exome sequencing and machine learning identify new genes contributing to systemic sclerosis risk

Systemic sclerosis (SSc) is a severe autoimmune disease with complex genetic causes. Some genetic contributors have been identified, but others remain unknown, which has impeded development of ...
EurekAlert!

Machine learning algorithm brings long-read sequencing to the clinic

Researchers at EMBL’s European Bioinformatics Institute (EMBL-EBI) have developed a new machine learning method called SAVANA that significantly reduces sequencing errors for cancer genomes. Long-read ...