Making sense of genomic and healthcare data to improve diagnosis, treatments, and lives of patients.
Read the latest blogs from our bioinformatics team.
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.
Increasing gene coverage for developmental disorders in PanelApp using the Gene2Phenotype database
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.
Tumour in normal contamination (TINC) Part 2: Approaching variant recovery
The Genomics England Diverse Data team review the 100,000 Genomes Project for potential biases between groups with different ancestries.
Diversity and genetic ancestry effects in the Cancer Cohort of the 100,000 Genomes Project
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.
The BioSample Journey
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.
Developing an algorithm to de-identify pathology reports: part 2
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.
Detecting short tandem repeats from whole genome sequencing
