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      • Nina F. Schor, M.D., Ph.D.
      • Roland A. Owens, Ph.D.
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Long-read and Long-range Sequencing Scientific Interest Group

The last decade has demonstrated the power of genomics to unravel the etiology of complex traits and diseases. The vast majority of genomic studies have been based on mostly short read sequencing technologies (50-200 base pair fragments). With the development of long-read sequencing (such as Oxford Nanopore or Pacific Biosciences), it is now possible to routinely sequence fragments of 10-100 kilo bases and longer. At the same time, long-range linkage technologies such as Hi-C or Strand-Seq can be used to profile chromosome-scale interactions. The Long-read and Long-range Sequencing Scientific Interest Group hosts a monthly seminar series focused on these new technologies and their applications.

Many recent studies highlighted the improved capability of long-read sequencing to detect structural variation in the human genome. Long-read sequencing was used to produce the first complete assembly of the human genome by the Telomere-to-Telomere consortium. Further, the Human Pangenome Reference Consortium has recently released 47 nearly-complete haplotype-resolved human genomes from diverse backgrounds sequenced using multiple long-read technologies.

Many groups at the NIH already have explored recent advances in long-read sequencing with long-read and long-range technologies that make it feasible to sequence entire genomes, identify structural/complex variants and sequence full-length transcriptomes of practically any imaginable sample. The Long-read and Long-range Sequencing Scientific Interest Group will build upon this new field changing and innovative technology by hosting a monthly seminar series with both internal and outside experts in the field. Potential future events include a scientific symposium, workshops to discuss best practices of sample preparation, sequencing and data analysis. 

Please click here for a list of upcoming seminars.

Mailing List

To join the Long-read and Long-range Sequencing Scientific Interest Group mailing list, please visit the Long-read and Long-range Sequencing Scientific Interest Group Listserv home page, then click the “Subscribe or Unsubscribe” link in the right sidebar.

Chairs

  • Arang Rhie, Ph.D., NHGRI
  • Kimberley Billingsley, NIA
  • Mikhail Kolmogorov, Ph.D., NCI

Advisors

  • Adam M. Phillippy, Ph.D., NHGRI
  • Cornelis Blauwendraat, Ph.D., NIA

Scientific Focus Areas

  • Clinical Research

    View SIGs in Clinical Research

    Learn more about Clinical Research in the IRP

  • Genetics and Genomics

    View SIGs in Genetics and Genomics

    Learn more about Genetics and Genomics in the IRP

  • Molecular Biology and Biochemistry

    View SIGs in Molecular Biology and Biochemistry

    Learn more about Molecular Biology and Biochemistry in the IRP

This page was last updated on Friday, December 6, 2024

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    • Health Disparities
    • Immunology
    • Microbiology and Infectious Diseases
    • Molecular Biology and Biochemistry
    • Molecular Pharmacology
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    • RNA Biology
    • Social and Behavioral Sciences
    • Stem Cell Biology
    • Structural Biology
    • Systems Biology
    • Virology
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  • About OIR
    • OIR Leadership & Staff
    • DDIR Innovation Awards
    • Long-Term IRP Planning
    • OIR Offices
  • Sourcebook
    • Board of Scientific and Clinical Directors
    • Committees Advisory to the DDIR
    • Processes for Reviewing NIH Intramural Science
    • Intramural Program Oversight
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    • Personnel
    • Tenure in the NIH Intramural Research Program
    • Awards, Fellowships, & Grant Opportunities
    • Ethical Conduct
    • Mentoring & Training
    • Submitting Research Publications
    • Intramural Research Communications & Resources
  • Lectures & Events
    • WALS
    • NIH Research Festival
  • SIGs
    • SIGs by Name
    • SIGs by Scientific Focus Area
  • IRP Website
    • A premier environment where creative scientists conduct fundamental research for the betterment of human health – we are the IRP
    • Visit Website
  • The NIH Catalyst
    • A publication for and about the NIH intramural research community
    • Visit Website
  • NIDB
    • The NIH Intramural Database collects and disseminates information about research being performed in the Intramural Programs
    • Visit Website
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