PacBioウェビナーシリーズ
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日時：2020/5/14(木) 12時～
セミナータイトル：Bioinformatic solutions for PacBio HiFi reads
スピーカー：Khi Pin Chua, Ph.D.Field Applications Support, BioinformaticsPacBio Asia Pacific
The release of the PacBio Sequel II System in 2019 brought dramatic throughput improvements and protocols for producing a new data type, highly accurate long reads or HiFi reads. PacBio is the only sequencing technology to offer highly accurate long reads (HiFi reads) that provide Sanger-quality accuracy (>99%) with the read lengths needed for assembly of complex genomes. The long length and high accuracy of HiFi reads makes them the ideal starting point for many applications, and one area of major interest is genome assembly. HiFi assembly is faster, cheaper, more accurate, and easier to phase than standard long-read assembly.
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日時：2020/5/28(木) 2時～3時
セミナータイトル：Increasing Solve Rates for Rare and Mendelian Diseases withLong-read Sequencing
The current solve rate for rare diseases is <50% for whole exome and genome sequencing using massively parallel short reads. What if you could now map the causative variant for cases that were previously unsolved? Register for our webinar on how long-read sequencing is being incorporated for rare Mendelian diseases and learn about:
– Why highly accurate HiFi reads matter in long-read sequencing
– What can be detected with HiFi reads that are missed with standard sequencing methods
– How long-read sequencing can help increase the solve rates in rare Mendelian disease
– How Dr. Kristen Sund from Cincinnati Children’s Hospital Medical Center has used long-read sequencing to solve rare neurological diseases involving complex structural rearrangements that were previously unsolved with standard methods
スピーカー：Kristen Sund, Ph.D.Clinical Fellow, Division of Human GeneticsCincinnati Children’s Hospital Medical Center
Aaron Wenger, Ph.D.Principal ScientistPacBio
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