ReviewHepatology (Baltimore, Md.)2019
Exome Sequencing in Clinical Hepatology.
Review in Hepatology (Baltimore, Md.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- Toward a Genomics-Driven Hepatology: Liver Biology, Precision Diagnosis, and the Rise in Genetic Therapies.Pharmaceutics · 2026Review
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- A simplified hybrid capture approach retains high specificity and enables PCR-free workflow.BMC genomics · 2025Article
- Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.Diagnostics (Basel, Switzerland) · 2025Article
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- Preliminary identification of somatic mutations profile in ACL injury.Scientific reports · 2024Article
- Whole-exome sequencing for genetic diagnosis of idiopathic liver injury in children.Journal of cellular and molecular medicine · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.Journal of hepatology · 2023Review
- Epigenetic Regulation in Lean Nonalcoholic Fatty Liver Disease.International journal of molecular sciences · 2023Review
- Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study.JHEP reports : innovation in hepatology · 2023Article
- Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases.Frontiers in genetics · 2023Article
- Genomic medicine for liver disease.Hepatology (Baltimore, Md.) · 2022Review
- Emerging Role of Genomic Analysis in Clinical Evaluation of Lean Individuals With NAFLD.Hepatology (Baltimore, Md.) · 2021Review
- Undiagnosed liver diseases.Translational gastroenterology and hepatology · 2021Review
- Evolution of the liver biopsy and its future.Translational gastroenterology and hepatology · 2021Review
- Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?JHEP reports : innovation in hepatology · 2020Review
- Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.Hepatology (Baltimore, Md.) · 2020Article
- Pediatric Cholestasis: Epidemiology, Genetics, Diagnosis, and Current Management.Clinical liver disease · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The clinical relevance of the Human Genome Project and next-generation sequencing technology was demonstrated for the first time in 2009, when whole-exome sequencing (WES) provided the definitive diagnosis of congenital chloride diarrhea in an infant with presumed renal salt-wasting disease. Over the past decade, numerous studies have shown the utility of WES for clinical diagnosis as well as for discovery of novel genetic disorders through analysis of a single or a handful of informative pedigrees. Hence, advances in improving the speed, accuracy, and computational analysis combined with exponential decrease in the cost of sequencing the human genome is transforming the practice of medicine. The impact of WES has been most noticeable in pediatric disorders and oncology, but its utility in the liver clinic is recently emerging. Here, we assess the current status of WES for clinical diagnosis and acceleration of translation research to enhance care of patients with liver disease.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.