Long Read DNA Sequencing has the potential to help diagnose several diseases and disorders. Recent advancements mean that long-read sequencing is no longer an expensive, low throughput, error-prone process.

Our November 2021 Discovery Series discussion group focused on the current uses and potential of multi-omics bioinformatics.

Our April 2022 Omics Series discussion group focused on the potential and future of single-cell proteomics.

In this Commentary article, we investigate the application of new research techniques to inspecting genomic data for the presence of de novo variants - genetic alterations present for the first time in one individual as a result of a variant inherited from a parent. Used in combination with data from the 100,000 Genome Project, these techniques could reduce the time taken for patients to receive a diagnosis for rare genetic diseases.