Uploaded November 2025 | Updated September 2026, 1 hour ago
Niall Lennon, Chair and CSO of Broad Clinical Labs, discusses the application of genomics from large-scale discoveries to patient diagnoses at PacBio PRISM in Boston. He outlines how the Broad Institute leverages comprehensive genomic data, including long reads, to help close the gap between biological insights and meaningful patient outcomes.
Lennon explores the expanding utility of the human genome, from understanding baseline somatic mosaicism to accelerating diagnostics for newborns in the NICU. He emphasizes the critical need for large, ancestrally diverse population catalogs to power preventative medicine, build more accurate polygenic risk scores, and resolve variants of unknown significance that can hinder diagnoses.
Delving into specific applications, Lennon details key projects using PacBio long-read sequencing. He highlights the Broad's work within the All of Us Research Program to enhance structural variant detection and shares promising results from a collaboration with Boston Children's Hospital, where HiFi sequencing helped provide new diagnostic findings in at least 15% of previously unexplained rare disease cases.
00:00 Introduction: connecting science to patient impact
01:36 The genomics spectrum: from discovery to therapy
06:04 Understanding somatic mosaicism
11:18 Applying genomics across the lifespan
13:24 Powering preventative medicine with population data
18:07 Use case: enhancing the All of Us Research Program
25:34 Use case: solving rare disease at Boston Children's
28:10 Future work: methylation and clinical validation
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
Niall Lennon, Chair and CSO of Broad Clinical Labs, discusses the application of genomics from large-scale discoveries to patient diagnoses at PacBio PRISM in Boston. He outlines how the Broad Institute leverages comprehensive genomic data, including long reads, to help close the gap between biological insights and meaningful patient outcomes.
Lennon explores the expanding utility of the human genome, from understanding baseline somatic mosaicism to accelerating diagnostics for newborns in the NICU. He emphasizes the critical need for large, ancestrally diverse population catalogs to power preventative medicine, build more accurate polygenic risk scores, and resolve variants of unknown significance that can hinder diagnoses.
Delving into specific applications, Lennon details key projects using PacBio long-read sequencing. He highlights the Broad's work within the All of Us Research Program to enhance structural variant detection and shares promising results from a collaboration with Boston Children's Hospital, where HiFi sequencing helped provide new diagnostic findings in at least 15% of previously unexplained rare disease cases.
00:00 Introduction: connecting science to patient impact
01:36 The genomics spectrum: from discovery to therapy
06:04 Understanding somatic mosaicism
11:18 Applying genomics across the lifespan
13:24 Powering preventative medicine with population data
18:07 Use case: enhancing the All of Us Research Program
25:34 Use case: solving rare disease at Boston Children's
28:10 Future work: methylation and clinical validation
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
