Douglas Fowler

Dec 11, 2023 | cell.com | Douglas Fowler |Heidi Rehm

In 2020, the National Human Genome Research Institute (NHGRI) made ten “bold predictions,” including that “the clinical relevance of all encountered genomic variants will be readily predictable, rendering the diagnostic designation ‘variant of uncertain significance (VUS)’ obsolete.” We discuss the prospects for this prediction, arguing that many, if not most, VUS in coding regions will be resolved by 2030.

Dec 11, 2023 | cell.com | Byrne A.B |Douglas Fowler |Heidi Rehm

SummaryIn 2020, the National Human Genome Research Institute (NHGRI) made ten “bold predictions,” including that “the clinical relevance of all encountered genomic variants will be readily predictable, rendering the diagnostic designation ‘variant of uncertain significance (VUS)’ obsolete.” We discuss the prospects for this prediction, arguing that many, if not most, VUS in coding regions will be resolved by 2030.

Jul 2, 2023 | genomebiology.biomedcentral.com | Douglas Fowler |David Adams |Anna L Gloyn |William Hahn |Debora S. Marks |James Neal | +5 more

Compiling a complete Atlas of Variant Effects for all 20,000 human genes, not to mention potentially hundreds of thousands of noncoding regulatory elements, will require an international collaborative effort involving thousands of researchers, clinicians and technologists. Comparing this initiative to some of the landmark genomic collaborative achievements of the past 30 years highlights some of the key challenges to be addressed.