ArticleScientific reports2019
Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 52 citations in OpenAlex.
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.Genome medicine · 2025Trial
- Spectrum and genotype-phenotype correlation of NR5A1 variants in 46,XY DSD: a systematic review and meta-analysis.Endocrine connections · 2026Article
- A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.Genetics and molecular biology · 2026Article
- Sequenoscope: a modular tool for nanopore adaptive sequencing analytics and beyond.Access microbiology · 2026Article
- From Data to Cure: A Comprehensive Exploration of Multi-omics Data Analysis for Targeted Therapies.Molecular biotechnology · 2025Review
- A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches.Scientific reports · 2025Article
- Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.Frontiers in molecular biosciences · 2025Article
- Genetics and Genomics of Gastroschisis, Elucidating a Potential Genetic Etiology for the Most Common Abdominal Defect: A Systematic Review.Journal of developmental biology · 2024Review
- The frequency of known germline LGR4 missense variant in the ethnic groups of West Siberia.Molecular biology reports · 2024Article
- Role of fibrilins in human cancer: A narrative review.Health science reports · 2023Article
- Mutations in DNA polymerase δ subunit 1 co-segregate with CMD2-type resistance to Cassava Mosaic Geminiviruses.Nature communications · 2022Article
- A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.NPJ genomic medicine · 2022Article
- Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.The Lancet. Neurology · 2022Article
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- Case Report: A Novel Homozygous Missense Variant ofFrontiers in genetics · 2022Article
- Article
- CBG Montevideo: A Clinically NovelJournal of the Endocrine Society · 2021Article
- Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.BMC medical genomics · 2021Article
- Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.Human genomics · 2021Article
- Orphan Medicine Incentives: How to Address the Unmet Needs of Rare Disease Patients by Optimizing the European Orphan Medicinal Product Landscape Guiding Principles and Policy Proposals by the European Expert Group for Orphan Drug Incentives (OD Expert Group).Frontiers in pharmacology · 2021Article
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases are usually chronically debilitating or even life-threatening with diagnostic and therapeutic challenges in current clinical practice. It has been estimated that 80% of rare diseases are genetic in origin, and thus genome sequencing-based diagnosis offers a promising alternative for rare-disease management. In this study, 79 individuals from 16 independent families were performed for whole-genome sequencing (WGS) in an effort to identify the causative mutations for 16 distinct rare diseases that are largely clinically intractable. Comprehensive analysis of variations, including simple nucleotide variants (SNVs), copy-number variations (CNVs), and structural variations (SVs), was implemented using the WGS data. A flexible analysis pipeline that allowed a certain degree of misclassification of disease status was developed to facilitate the identification of causative variants. As a result, disease-causing variants were identified in 10 of the 16 investigated diseases, yielding a diagnostic rate of 62.5%. Additionally, new potentially pathogenic variants were discovered for two disorders, including IGF2/INS-IGF2 in mitochondrial disease and FBN3 in Klippel-Trenaunay-Weber syndrome. Our WGS analysis not only detected a CNV associated with 3p deletion syndrome but also captured a simple sequence repeat (SSR) variation associated with Machado-Joseph disease. To our knowledge, this is the first time the clinical WGS analysis of short-read sequences has been used successfully to identify a causative SSR variation that perfectly segregates with a repeat expansion disorder. After the WGS analysis, we confirmed the initial diagnosis for three of 10 established disorders and modified or corrected the initial diagnosis for the remaining seven disorders. In summary, clinical WGS is a powerful tool for the diagnosis of rare diseases, and its diagnostic clarity at molecular levels offers important benefits for the participating families.
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