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REEV: review, evaluate and explain variants
In the era of high throughput sequencing, special software is required for the clinical
evaluation of genetic variants. We developed REEV (Review, Evaluate and Explain …
evaluation of genetic variants. We developed REEV (Review, Evaluate and Explain …
Computational facial analysis for rare Mendelian disorders
TC Hsieh, PM Krawitz - … Journal of Medical Genetics Part C …, 2023 - Wiley Online Library
With the advances in computer vision, computational facial analysis has become a powerful
and effective tool for diagnosing rare disorders. This technology, also called next‐generation …
and effective tool for diagnosing rare disorders. This technology, also called next‐generation …
[HTML][HTML] Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
EE Vorsteveld, CI Van der Made, SP Smeekens… - Clinical …, 2024 - Elsevier
While next generation sequencing has expanded the scientific understanding of Inborn
Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging …
Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging …
GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders
A Kirchhoff, A Hustinx, B Javanmardi… - European Journal of …, 2025 - nature.com
The facial gestalt (overall facial morphology) is a characteristic clinical feature in many
genetic disorders that is often essential for suspecting and establishing a specific diagnosis …
genetic disorders that is often essential for suspecting and establishing a specific diagnosis …
Understanding recessive disease risk in multi‐ethnic populations with different degrees of consanguinity
LA La Rocca, J Frank, HB Bentzen… - American Journal of …, 2024 - Wiley Online Library
Population medical genetics aims at translating clinically relevant findings from recent
studies of large cohorts into healthcare for individuals. Genetic counseling concerning …
studies of large cohorts into healthcare for individuals. Genetic counseling concerning …
Omics and rare diseases: challenges, applications, and future perspectives
D Braconi, H Nadwa, G Bernardini… - Expert Review of …, 2025 - Taylor & Francis
ABSTRACT Introduction Rare diseases (RDs) are a heterogeneous group of diseases
recognized as a relevant global health priority but posing aspects of complexity such as …
recognized as a relevant global health priority but posing aspects of complexity such as …
Next‐generation phenoty** in Nigerian children with Cornelia de Lange syndrome
Next‐generation phenoty** (NGP) can be used to compute the similarity of dysmorphic
patients to known syndromic diseases. So far, the technology has been evaluated in variant …
patients to known syndromic diseases. So far, the technology has been evaluated in variant …
Privacy-by-Design with Federated Learning will drive future Rare Disease Research
S Süwer, MS Ullah, N Probul, A Maier… - Journal of …, 2024 - journals.sagepub.com
Up to 6% of the global population is estimated to be affected by one of about 10,000 distinct
rare diseases (RDs). RDs are, to this day, often not understood, and thus, patients are …
rare diseases (RDs). RDs are, to this day, often not understood, and thus, patients are …
[HTML][HTML] Big data and transformative bioinformatics in genomic diagnostics and beyond
A Saparov, M Zech - Parkinsonism & Related Disorders, 2025 - Elsevier
The current era of high-throughput analysis-driven research offers invaluable insights into
disease etiologies, accurate diagnostics, pathogenesis, and personalized therapy. In the …
disease etiologies, accurate diagnostics, pathogenesis, and personalized therapy. In the …
GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases
The most important factor that complicates the work of dysmorphologists is the significant
phenotypic variability of the human face. Next-Generation Phenoty** (NGP) tools that …
phenotypic variability of the human face. Next-Generation Phenoty** (NGP) tools that …