Genomics

From Data to Diagnosis: BBI Survey Reveals Roadblocks and Opportunities for Using Functional Evidence in Variant Classification

June 17, 2025 | by BBI Communications

New survey among genetics professionals indicates a strong demand for a comprehensive database with standardized metrics to support using functional evidence in clinical variant interpretation

Paper Advances Understanding how Genetic Variations Drive Disease: Q &A with BBI’s Dr. Andrew Stergachis

March 17, 2025 | by BBI Communications

‘We were able to precisely resolve the genetic and molecular basis of (the individual patient’s) condition, thereby providing both her family and care team with answers to help support her moving forward.’

Q&A with Dr. Sudarshan Pinglay on Paper Regarding Structural Variants and Genome-Shuffle-Seq

February 12, 2025 | by BBI Communications

Dr. Pinglay and UW Genome Sciences researchers recently published, “Multiplex generation and single cell analysis of structural variants in mammalian genomes” in the journal Science. That study, in tandem with another paper by the Wellcome Sanger Institute, advance the study of structural variants.

Chan Zuckerberg Initiative Grant Advances BBI Research to ‘Democratize’ Access to Synthetic DNA

January 27, 2025 | by BBI Communications

‘Hopeful our work will enable not just us – but researchers everywhere – in a few years to readily obtain synthetic DNA’

Chan Zuckerberg Initiative Supports BBI to Better Understand Genetic Variants

January 06, 2025 | by BBI Communications

‘Critical step toward CZI’s mission to cure, prevent, or manage diseases by end of 21st Century’

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.