Long Read Sequencing
EpiSignaLR: An Open Resource for Genome-wide Episignature Analysis from Methylation-aware Short-and Long-Read Sequencing
November 02, 2026 | by Sophia Gibson
Episignatures are reproducible, disorder-specific patterns of genome-wide DNA methylation
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Long-Read Sequencing Symposium Explores New Insights and Examines Potential Clinical Applications
October 30, 2026 | by BBI Communications
“Everyone benefits from the diversity of viewpoints and perspectives.”
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Long-Read Sequencing Symposiun Preview: Q & A with Keynote Speaker
September 25, 2026 | by BBI Communications
'I expect long-read sequencing to become standard for diagnosing rare disease cases'
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New Paper Explores Long-Read Sequencing of Pathogenic Structural Variants: Q&A with First Author Jonas Gustafson
August 12, 2026 | by BBI Communications
The paper, “needLR: long read structural variant annotation with population-scale frequency estimation,” discusses filtering and prioritization of pathogenic structural variants using data from the 1,000 Genomes Project.
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‘Sample to Sequence’ Workflow for Long Read Sequencing: A Q&A with BBI’s Danny Miller
February 27, 2026 | by BBI Communications
Miller explains new streamlined method for sequencing blood and tissue samples
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New Paper Outlines the Purpose and Progress of GREGoR Consortium
November 12, 2025 | by BBI Communications
‘Long-read sequencing has ushered in new diagnostic opportunities in rare diseases’
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Long-Read Symposium: Two Presenters Share Their Research and Impressions
September 24, 2025 | by BBI Communications
Sophie Kogut, a graduate student in the Blanco-Melo lab at the Fred Hutchinson Cancer Center, and F. Kumara Mastrorosa, Ph.D., a Post-doctoral Scholar, in the Eichler Lab at the UW, offer insights
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Long-Read Symposium Set for September 16; Registration Closes September 5
August 27, 2025 | by BBI Communications
'The momentum for wider use of long-read sequencing and collaboration among researchers and clinicians is growing in the Puget Sound.' Danny Miller, M.D., Ph.D.
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