Wellcome Sanger updates DECIPHER

A new update of its online tool DECIPHER was recently launched by Wellcome researchers and collaborators at Cambridge University Hospitals NHS Foundation Trust (CUH), which runs Addenbrooke’s and the Rosie maternity hospitals, now enables users to input, view and share genomic changes in any region of the genome.

Said to be the largest, most comprehensive resource of its kind in the world, DECIPHER brings together genetic and clinical information from thousands of patients with rare genetic conditions, thus enabling diagnoses for families affected by rare diseases and enhances the understanding of human genetics, according to Wellcome Sanger.

Previously, DECIPHER users could view changes of a single letter of genetic code, and changes in the number of copies of a gene. Now, additional variants are included: regions of repeats-STRs, regions of the genome that have been inverted or inserted and chromosome variants—including regions inherited in an atypical way.

“After the human genome was sequenced in 2004, we created DECIPHER to put that data to use. Our aim remains the same as when we first launched—to understand the significance of genetic changes in health and disease,” says Helen Firth, a consultant clinical geneticist at Addenbrooke’s Hospital. “DECIPHER, today, continues to bring emerging knowledge of human genetics and genomics to the forefront of clinical practice.”

In DECIPHER, each genetics center maintains control of its own patient data or shares the data with trusted parties in a collaborative group until patient consent is given to allow data, without identifying details, to become freely viewable within genome browsers.

“The first step in finding a cure is finding what the underlying cause of a disease is,” says Prof. Matthew Hurles, head of the Human Genetics division at Wellcome. “Everything is critically dependent on that. From that point onward, you can narrow in on the particular biology of the disease and what kind of drugs might be needed. Finding the cause of disease in all patients requires comprehensive consideration of all forms of genetic variation, and this latest update to DECIPHER enables exactly this.”

In other news, researchers from Wellcome, the University of Cambridge and colleagues from 101 research institutions worldwide studied hundreds of thousands of participants and identified over 7,000 regions of the human genome that control blood cell characteristics, such as the numbers of red and white cells.

The studies, published in Cell, also show for the first time how a person’s genetic profile contributes to developing blood diseases, bringing us one step closer to using genetic scoring to predict personal risk of developing blood disorders, researchers state.

In addition, Wellcome researchers in August joined national research projects to investigate the role of the immune system in tackling COVID-19.

Three new U.K.-wide studies, bringing together scientists from the Wellcome and 16 other research institutions, will receive £8.4 million from UK Research and Innovation and the National Institute for Health Research to understand immune responses to the coronavirus pandemic. The scientists will strive to develop better tests to define immunity, to study the body’s immune response to SARS-CoV-2 and to understand why some people suffer from severe life-threatening COVID-19 while others have mild or asymptomatic infections but can still transmit the virus.