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 ...
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.
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 ...
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
The ability to synthesize and sequence vast numbers of DNA constructs is a cornerstone of modern high-throughput biological screening and discovery. As a result, the need for faster, easier, and more ...
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 ...
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 ...
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