У нас вы можете посмотреть бесплатно Akash Kumar, MD, PhD, MyOme, Whole Genome Sequencing - Recent Developments & Implications for NBS или скачать в максимальном доступном качестве, видео которое было загружено на ютуб. Для загрузки выберите вариант из формы ниже:
Если кнопки скачивания не
загрузились
НАЖМИТЕ ЗДЕСЬ или обновите страницу
Если возникают проблемы со скачиванием видео, пожалуйста напишите в поддержку по адресу внизу
страницы.
Спасибо за использование сервиса ClipSaver.ru
Akash Kumar, MD, PhD is co-founder of MyOme, a clinical whole genome platform company, where he oversees medical and scientific efforts. Presentation Abstract: Whole Genome Sequencing: Recent developments and considerations for NBS The past fifteen years have seen dramatic improvements in technology to read the genome – elucidating the genetic underpinnings of thousands of rare diseases. Despite lowering costs of sequencing, clinical genetic testing remains complex to order and inconsistently reimbursed, limiting its impact. Recent advances in our understanding of common diseases and “polygenic risk scoring” will expand the scope of genetic testing to conditions that affect most families. MyOme’s mission is to expand access to clinically meaningful genetic information by building a whole-genome analysis platform. In this talk, I will discuss motivations behind a paradigm of “sequence once, query often” and how implementation of WGS in newborn screening can accelerate broad and more equitable precision medicine in children.