Morris A. Swertz

Aug 15, 2024 | onlinelibrary.wiley.com | Rosa Gini |Romin Pajouheshnia |Morris A. Swertz |Lia Gutierrez

1 Introduction In November 2020, the MINERVA (Metadata for data dIscoverability aNd study rEplicability in obseRVAtional studies) project (EUPAS39322) was initiated in response to the Heads of Medicines Agencies–European Medicines Agency (HMA–EMA) joint Big Data Task Force recommendation on “the identification of metadata” for regulatory decision-making on the choice of data source [1-3].

Mar 13, 2024 | nature.com | Anneke Lucassen |Morris A. Swertz

AbstractWith the introduction of Next Generation Sequencing (NGS) techniques increasing numbers of disease-associated variants are being identified. This ongoing progress might lead to diagnoses in formerly undiagnosed patients and novel insights in already solved cases. Therefore, many studies suggest introducing systematic reanalysis of NGS data in routine diagnostics.