This blog describes how we used a gene panel from an external resource to improve the gene coverage for testing patients with developmental disorders in the NHS GMS.
In part 2 of this series, Genome Data Scientists Olena and Nadezda discuss our approach to variant recovery in incidences of contaminated normal samples during somatic variant detection.
In this blog, members of the Genomics England Biosample Logistics team discuss the journey of a biosample through the Genomic Medicine Service and on to Research Cohorts.
In part 2 of this series, Andreia and Stanley, Applied Machine Learning Engineers, explore the algorithms used in the de-identification pipeline, explaining how and why each of them was chosen.
Two of our genome data scientists discuss 'short tandem repeats' and how detecting them with new efficient methods is bringing more genetic diagnoses to patients.