Introduction: Primary microcephaly (MCPH) is not an uncommon disorder with multiple etiologies. There is a growing number of MCPH-related genes discovered due to the extensive application of whole-exo

DataCite Commons2023-10-29 更新80

Supplementary Material for: The Quality of Rare Disease Registries: Evaluation and Characterization

罕见疾病

质量评估

Background: The focus on the quality of the procedures for data collection, storing, and analysis in the definition and implementation of a rare disease registry (RDR) is the basis for d

DataCite Commons2020-09-02 更新50

Simulation of undiagnosed patients with novel genetic conditions

罕见疾病

基因模拟

We present a computational pipeline to simulate realistic undiagnosed rare disease patients that can be used to evaluate gene prioritization tools. Each simulated patient is represented by sets of can

DataONE2023-04-10 更新80

Additional file 3 of Rare disorders have many faces: in silico characterization of rare disorder spectrum

罕见疾病

HPO (人类表型本体)

Additional file 3. This RAR compressed .xlsx file contains our categorization of HPO terms to the disorder categories, borderline-common, rare and ultra-rare, and the HPO co-occurrence matrix for the

DataCite Commons2022-02-23 更新50

Indigenous genetics and rare diseases: Harmony, diversity and equity

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