RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
VoicePAT: An Efficient Open-Source Evaluation Toolkit for Voice Privacy Research
Speaker anonymization is the task of modifying a speech recording such that the original speaker cannot be identified anymore. Since the first Voice Privacy Challenge in 2020, along with the release of a framework, the popularity of this research topic ...
Sarina Meyer +2 more
doaj +1 more source
Antropologisk forskning i sensitive felt – retningslinjer til besvær
Sammendrag Denne artikkelen handler om tre metodologiske utfordringer knyttet til anonymisering, samtykke og detalj-planlagte feltarbeid. Antropologisk forskning er en hermeneutisk, fenomenologisk forskningstradisjon som vektlegger relasjoner,
Mari Rysst
doaj +1 more source
Individual Privacy vs Population Privacy: Learning to Attack Anonymization [PDF]
Over the last decade there have been great strides made in developing techniques to compute functions privately. In particular, Differential Privacy gives strong promises about conclusions that can be drawn about an individual.
Cormode, Graham
core
ABSTRACT Objective This study aimed to investigate the immunological response to influenza vaccination, the incidence and severity of influenza infection, and the side effects of the vaccination in patients with ischemic stroke. Methods This prospective observational study was conducted between 2023 and 2024 at Ramathibodi Hospital.
Achiraya Pakngao +5 more
wiley +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Comparison of anonymization techniques regarding statistical reproducibility.
BackgroundAnonymization opens up innovative ways of using secondary data without the requirements of the GDPR, as anonymized data does not affect anymore the privacy of data subjects.
David Pau +6 more
doaj +1 more source
Feedback-Based Integration of the Whole Process of Data Anonymization in a Graphical Interface
The interactive, web-based point-and-click application presented in this article, allows anonymizing data without any knowledge in a programming language.
Bernhard Meindl, Matthias Templ
doaj +1 more source
Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin +11 more
wiley +1 more source
Facial Dataset Anonymization: Striking the Balance Between Privacy and Utility
The availability of publicly accessible datasets with identifiable facial images is essential for various research and development purposes. However, this wide access also underscores an increasing need for robust privacy protection. Regulations like the
Emna Bensaid +4 more
doaj +1 more source

