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.

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