Increasing Solve Rates for Rare and Mendelian Diseases with Long-read Sequencing희귀 질환에 대해 short read를 이용한 현재까지의 해독률은 전체 엑솜 및 게놈 시퀀싱에 대해 50 % 미만입니다. 해독되지 않은 케이스에 대해 원인이 되는 변이를 매핑 할 수 있다면 어떨까요? 희귀 멘델리안 질환에 대해 PacBio long read sequencing이 어떻게 적용될 수 있는지 알아보세요!
이번 웨비나에서는 다음과 같은 내용을 확인하실 수 있습니다.
•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
•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
Date & Time:
Date & Time:
2020년 5월 28일 목요일, 오전 2시 (한국시간)
Speakers :