RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the ...
Deep learning variant calling has transformed genomic accuracy. Discover how DeepVariant works, outperforms classical tools, ...
ctDNA test, which is an important aspect in liquid biopsy, offers a non-invasive alternative to tissue biopsies for cancer diagnosis and monitoring. Ultra-deep ctDNA sequencing enabling the detection ...
DNA methylation is a highly studied epigenetic modification that is involved in regulating genome function and plays fundamental roles in development and disease. 1 It is linked to a broad range of ...