Genomics

New BBI Study Reveals Need for Gene-Specific Calibration in AI-Predicted Variant Effect Data

September 04, 2024 | by BBI Communications

‘Output from these AI models requires careful calibration before it can be used in clinical genetics…. Data must be tested against control variants and adjusted as needed.’

UW Genome Sciences Hackathon Leads to New Long-Read Sequencing Technology

June 11, 2024 | by BBI Communications

‘An opportunity to test a wide range of machine learning approaches’

Genetic test analysis led to artistic expression of thanks

May 21, 2024 | by BBI Communications

Guild presents quilt to Genetic Medicine Clinic in appreciation of member learning her genetic variants

BBI Expert Panel Provides Insights about Human Genome Project to Trainees at NHGRI Conference

April 24, 2024 | by BBI Communications

Medical genetics ‘will become the soul of precision medicine in every field’

Long-Read Sequencing Consortium Offers PhD Students a Role in Addressing Precision Medicine Challenge

March 29, 2024 | by BBI Communications

Working under the direction of BBI’s Danny Miller, M.D., Ph.D., three graduate students, along with colleagues in the U.S. and five other nations, are working on research that promises to address one of precision medicine’s greatest challenges.

Birth coincides with rapid changes in gene activities

February 16, 2024 | by UW Medicine Communications

Time-lapse gene transcript profiling at the single-cell level during mouse prenatal development reveals this and other transformations.

Speakers Confirmed for November 15 BBI Long-Read Sequencing Symposium

October 31, 2023 | by BBI Communications

Bringing together Seattle-area users ‘to learn from each other, build new collaborations, and to explore potential synergies’

BBI Hosts CDC Officials’ Visit to UW Pathogen Genomics Center of Excellence

August 28, 2023 | by BBI Communications

BBI hosted officials from the CDC August 25 on the UW campus of the Pathogen Genomics Center of Excellence (PGCoE), one of five in the nation funded by the CDC to prepare for and respond to microbial threats to public health.

BBI Hosting Long-Read Symposium in November

August 24, 2023 | by BBI Communications

BBI is hosting a half-day symposium November 15 on long-read sequencing, with invited and contributed talks on ways long-read sequencing is being used in the Puget Sound region.

National Scientific Consortium, with BBI Members, Exploring Tests to Discover Causes of Unexplained Genetic Disorders

July 25, 2023 | by BBI Communications

A consortium of scientists at five leading research centers in the United States will soon publish a paper seeking to address a daunting challenge in precision medicine: identifying the best genetic test to make precise genetic diagnoses in families with a Mendelian condition.

BBI Scientists Awarded $12.5 Million NIH Grant to Study Genomic Variation Among Cells

May 31, 2023 | by Michael McCarthy, UW Medicine Communications

The new research effort aims to identify genome diversity within cells of different bodily tissues, which affect normal development, aging and our overall health.

Rodent Regeneration: ‘Unique’ Spiny Mouse Genome Offers Potential Scientific Roadmap to Reclaiming Patients’ Damaged or Failing Organs

May 30, 2023 | by BBI Communications

How does a five-inch long rodent native to African and Middle Eastern deserts offer what researchers affiliated with the Brotman Baty Institute believe is the greatest hope for restoring a person’s damaged or failing kidneys, liver, or other internal organs?

Genomic Sequencing Offers Insights into the Life – and Death – of Beethoven

April 02, 2023 | by BBI Communications

Why would the editors of a respected peer-reviewed journal consider, let alone publish, a paper based on five strands of hair from a man who has been dead nearly 150 years?