An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Next-generation sequencing has revolutionized rare disease diagnostics, but many patients remain without a molecular diagnosis, particularly because many candidate variants usually survive despite strict filtering. Exomiser was launched in 2014 as a Java tool that performs an integrative analysis of...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Genes (Basel)
Главные авторы: Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I., Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Robinson, Peter N., Jacobsen, Julius O.B., Smedley, Damian
Формат: Artigo
Язык:Inglês
Опубликовано: MDPI 2020
Предметы:
Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7230372/
https://ncbi.nlm.nih.gov/pubmed/32340307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11040460
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы