Human Genetics Asia 2023 (HGA)
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The Annual Meeting will be held over four days from Wednesday, October 11 to Saturday, October 14, 2023, at the Toshi Center Hotel and the Zenkoku Toshi Kaikan in Tokyo, Japan, in collaboration with
- 68th Annual Meetings of the Japan Society of Human Genetics (JSHG)
- 14th Asia Pacific Conference on Human Genetics (APCHG)
- 22nd Annual meeting of East Asian Union of Human Genetics Societies (EAUHGS) Visit the Oxford Nanopore industrial workshop for the latest product news and technology updates.
High-precision nanopore sequencer approach to human genomic diseases
Date: Saturday 14th October Time: 11:40 am - 12:30 pm Venue: Room 701, 7th Floor, Toshi Center Hotel
Speakers
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Chair: Professor Kenjiro Kosaki, MD, Professor, Center for Medical Genetics, Keio University School of MedicineFacioscapulohumeral muscular dystrophy (FSHD) is a muscle disorder caused by abnormal expression of the DUX4 protein, resulting from a contraction of D4Z4 repeat units with the presence of a polyadenylation (polyA) signal. More than 10 units of the D4Z4 repeat, with a length of 3.3 kb per unit, are required to silence DUX4 expression. Consequently, its molecular diagnosis is challenging. We used Oxford Nanopore technology to perform genome sequencing of seven FSHD patients and identified that they harbored one to five D4Z4 repeat units and the polyA signal. Our newly developed method could potentially provide a powerful molecular diagnostic tool for FSHD.
Facioscapulohumeral muscular dystrophy (FSHD) is a muscle disorder caused by abnormal expression of the DUX4 protein, resulting from a contraction of D4Z4 repeat units with the presence of a polyadenylation (polyA) signal. More than 10 units of the D4Z4 repeat, with a length of 3.3 kb per unit, are required to silence DUX4 expression. Consequently, its molecular diagnosis is challenging. We used Oxford Nanopore technology to perform genome sequencing of seven FSHD patients and identified that they harbored one to five D4Z4 repeat units and the polyA signal. Our newly developed method could potentially provide a powerful molecular diagnostic tool for FSHD.
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Professor Vorasuk Shotelersuk, MD, Director of Center of Excellence for Medical Genomics, Faculty of Medicine, Chulalongkorn University, Bangkok, ThailandOxford Nanopore Technologies' sequencers have been used in a variety of fields, starting with the launch of the palm-sized MinION sequencer in 2016, and now the PromethION 2 solo palm-sized human genome sequencer, which utilises the same chemistry, is now available and shipping. This makes it possible for any laboratory to carry out human genome sequencing with high precision. This talk will present updates on the latest nanopore sequencers and examples of how they have been used.
Oxford Nanopore Technologies' sequencers have been used in a variety of fields, starting with the launch of the palm-sized MinION sequencer in 2016, and now the PromethION 2 solo palm-sized human genome sequencer, which utilises the same chemistry, is now available and shipping. This makes it possible for any laboratory to carry out human genome sequencing with high precision. This talk will present updates on the latest nanopore sequencers and examples of how they have been used.
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Mari Miyamoto, General Manager, Japan, Oxford Nanopore Technologies
