Author:
Рыжкова О.П.,Кардымон О.Л.,Прохорчук Е.Б.,Коновалов Ф.А.,Масленников А.Б.,Степанов В.А.,Афанасьев А.А.,Заклязьминская Е.В.,Ребриков Д.В.,Савостьянов К.В.,Глотов А.С.,Костарева А.А.,Павлов А.Е.,Голубенко М.В.,Поляков А.В.,Куцев С.И.
Abstract
Представлена вторая версия руководства по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования. Первая версия руководства была опубликована в журнале «Медицинская генетика» в 2017 г. Она основана на рекомендациях и руководяcтвах по интерпретации результатов массового параллельного секвенирования (MPS), разработанных в Европе и США ACMG, CAP, ESHG и FDA. Обсуждение документа было проведено на профильных научных мероприятиях в течение 2017-2018 гг. Поступившие замечания и поправки к документу отражены в его текущей версии.
This is a second version of guidelines for the interpretation of massive parallel sequencing (MPS) variants. First version was published in Medical Genetics journal in 2017. They were based on ACMG, CAP, ESHG and FDA guidelines and recommendations. Leading authorities on medical genetics and bioinformatics updated and finalized them. First version of guidelines was presented and discussed on all Russian conference «NGS in medical genetics» and all Russian conference «New technologies for diagnosing hereditary diseases». All members of these conferences and members of Russian Society of Medical Genetics could introduce amendments and give comments. Current version include reviewed notes and comments.
Publisher
Cifra Ltd - Russian Agency for Digital Standardization (RADS)
Subject
Electrical and Electronic Engineering,Building and Construction
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