ReviewCold Spring Harbor molecular case studies2018
Diagnosing rare diseases after the exome.
Review in Cold Spring Harbor molecular case studies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed.
- Next-Generation Whole-Exome Pattern: Advanced Methods and Clinical Significance.Current gene therapy · 2026Review
- Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.International journal of molecular sciences · 2025Observational
- Digenic variant interpretation with hypothesis-driven explainable AI.NAR genomics and bioinformatics · 2025Article
- Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.Journal of inherited metabolic disease · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.European journal of human genetics : EJHG · 2024Article
- Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.International journal of molecular sciences · 2024Article
- Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Defining the progeria phenome.Aging · 2024Article
- Approaches to diagnosis for individuals with a suspected inherited white matter disorder.Handbook of clinical neurology · 2024Review
- ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.Genome medicine · 2023Article
- Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.Molecular diagnosis & therapy · 2023Article
- How to choose a test for prenatal genetic diagnosis: a practical overview.American journal of obstetrics and gynecology · 2023Article
- Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.Journal of neuromuscular diseases · 2023Article
- Artificial intelligence and database for NGS-based diagnosis in rare disease.Frontiers in genetics · 2023Review
- Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.Frontiers in cell and developmental biology · 2023Article
- Resources and tools for rare disease variant interpretation.Frontiers in molecular biosciences · 2023Review
- Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.International journal of molecular sciences · 2022Article
- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.Journal of medical genetics · 2022Article
- Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.Molecular genetics & genomic medicine · 2022Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
High-throughput sequencing has ushered in a diversity of approaches for identifying genetic variants and understanding genome structure and function. When applied to individuals with rare genetic diseases, these approaches have greatly accelerated gene discovery and patient diagnosis. Over the past decade, exome sequencing has emerged as a comprehensive and cost-effective approach to identify pathogenic variants in the protein-coding regions of the genome. However, for individuals in whom exome-sequencing fails to identify a pathogenic variant, we discuss recent advances that are helping to reduce the diagnostic gap.
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Registered trials
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