ArticleBMC medical genomics2019
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
Article in BMC medical genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- The importance and clinical utility of reanalysis of exome and genome sequencing data.Kidney research and clinical practice · 2026Article
- Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy.Journal of neuromuscular diseases · 2026Article
- Genetic Variants Linked to Dyslexia Co-Morbid ADHD: A Case Study of a Pakistani Outpatient.Journal of population therapeutics and clinical pharmacology = Journal de la therapeutique des populations et de la pharmacologie clinique · 2024Article
- Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.European journal of pediatrics · 2024Article
- Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.Frontiers in genetics · 2024Article
- Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders.Molecular genetics & genomic medicine · 2023Article
- Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.European journal of human genetics : EJHG · 2023Article
- Article
- Evolution of virtual gene panels over time and implications for genomic data re-analysis.Genetics in medicine open · 2023Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.Genes · 2022Article
- Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.Orphanet journal of rare diseases · 2022Article
- Artificial Intelligence-Assisted Serial Analysis of Clinical Cancer Genomics Data Identifies Changing Treatment Recommendations and Therapeutic Targets.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.Frontiers in genetics · 2022Article
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.Journal of neuromuscular diseases · 2022Article
- NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.Human genetics · 2021Article
- Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.Genes · 2021Review
- Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.International journal of molecular sciences · 2021Review
- Clinical Exome Reanalysis: Current Practice and Beyond.Molecular diagnosis & therapy · 2021Review
- Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.BMC neurology · 2021Article
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24 authors.
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Abstract
backgroundThe past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made the genetic information accessible at a large scale. However, connecting a rare genetic variation to a complex phenotype remains challenging. Indeed, identifying the cause of a genetic disease requires a multidisciplinary approach, starting with the establishment of a clear phenotype with a detailed family history and ending, in some cases, with functional assays that are crucial for the validation of the pathogenicity of a mutation.
methodsTwo hundred Lebanese patients, presenting a wide spectrum of genetic disorders (neurodevelopmental, neuromuscular or metabolic disorders, etc.), sporadic or inherited, dominant or recessive, were referred, over the last three and a half years, to the Medical Genetics Unit (UGM) of Saint Joseph University (USJ). In order to identify the genetic basis of these diseases, Whole Exome Sequencing (WES), followed by a targeted analysis, was performed for each case. In order to improve the genetic diagnostic yield, WES data, generated during the first 2 years of this study, were reanalyzed for all patients who were left undiagnosed at the genetic level. Reanalysis was based on updated bioinformatics tools and novel gene discoveries.
resultsOur initial analysis allowed us to identify the specific genetic mutation causing the disease in 49.5% of the cases, in line with other international studies. Repeated WES analysis enabled us to increase the diagnostics yield to 56%.
conclusionThe present article reports the detailed results of both analysis and pinpoints the contribution of WES data reanalysis to an efficient genetic diagnosis. Lessons learned from WES reanalysis and interpretation are also shared.
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