Increasing Solve Rates in Rare and Mendelian Disease Research with Long-Read Sequencing

Date:

Tuesday, June 29, 2021

Time:

2:00 p.m. BST

Rare and Mendelian disorders may be individually rare, however collectively they affect an estimated 400 million people worldwide. Whole exome and genome sequencing using short reads explain only 30-50% of cases, leaving more than half of rare diseases without a known genetic cause. 

To address this gap, scientists are adopting highly accurate long reads, known as HiFi reads, as an improved sequencing approach for rare disease research. The longer read lengths (15 kb – 20 kb) and high accuracy (>99.9%) mean the full range of variants can be detected, thereby helping researchers rapidly improve their success rate.

The Sequel IIe System and HiFi Reads are available at the Long Read Sequencing Service, Department of Neuromuscular Diseases & UK DRI, University College London.

How advances in sequencing technologies and bioinformatics can help shed light on previously unexplained rare disease studies
Why highly accurate long reads are able to detect genomic variation that cannot be detected using whole exome or genome sequencing with short reads
How leading experts in rare disease research are using HiFi sequencing to unfold medical mysteries

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Applications of interest WGS - De Novo AssemblyVariant DetectionRNA SequencingMetagenomicsEpigeneticsTargeted SequencingOther

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Speaker

Gerrit Kuhn, Ph.D.

Field Applications Support Manager,
PacBio, Europe