ArticleDiscovery medicine2011
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
Article in Discovery medicine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 3 of them syntheses that pooled it.
What it found
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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
32 citing papers in PubMed, 3 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Prevalence of pyruvate kinase deficiency: A systematic literature review.European journal of haematology · 2020Pooled it
- Pooled it
- Use of next generation sequencing technologies in research and beyond: are participants with mental health disorders fully protected?BMC medical ethics · 2012Pooled it
- Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission.European journal of human genetics : EJHG · 2020Article
- VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants.Genomics, proteomics & bioinformatics · 2019Article
- Live fast, die young? A review on the developmental trajectories of ADHD across the lifespan.European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology · 2018Review
- Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder.Scientific reports · 2018Article
- Functional analysis of a triplet deletion in the gene encoding the sodium glucose transporter 3, a potential risk factor for ADHD.PloS one · 2018Article
- Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder.Psychiatric genetics · 2017Article
- Variant Ranker: a web-tool to rank genomic data according to functional significance.BMC bioinformatics · 2017Article
- Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.Cold Spring Harbor molecular case studies · 2016Article
- Moving towards causality in attention-deficit hyperactivity disorder: overview of neural and genetic mechanisms.The lancet. Psychiatry · 2016Review
- SeqMule: automated pipeline for analysis of human exome/genome sequencing data.Scientific reports · 2015Article
- SeqHBase: a big data toolset for family based sequencing data analysis.Journal of medical genetics · 2015Article
- The molecular genetic architecture of attention deficit hyperactivity disorder.Molecular psychiatry · 2015Review
- Incidental findings from clinical sequencing in Greece: reporting experts' attitudes.Journal of community genetics · 2014Article
- Incidental findings from clinical genome-wide sequencing: a review.Journal of genetic counseling · 2014Review
- Genetic counseling practice in next generation sequencing research: implications for the ethical oversight of the informed consent process.Journal of genetic counseling · 2014Article
- Review
- Molecular genetic testing and the future of clinical genomics.Nature reviews. Genetics · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 1 institution in 1 country.
Funding
Abstract
Exome sequencing has identified the causes of several Mendelian diseases, although it has rarely been used in a clinical setting to diagnose the genetic cause of an idiopathic disorder in a single patient. We performed exome sequencing on a pedigree with several members affected with attention deficit/hyperactivity disorder (ADHD), in an effort to identify candidate variants predisposing to this complex disease. While we did identify some rare variants that might predispose to ADHD, we have not yet proven the causality for any of them. However, over the course of the study, one subject was discovered to have idiopathic hemolytic anemia (IHA), which was suspected to be genetic in origin. Analysis of this subject's exome readily identified two rare non-synonymous mutations in PKLR gene as the most likely cause of the IHA, although these two mutations had not been documented before in a single individual. We further confirmed the deficiency by functional biochemical testing, consistent with a diagnosis of red blood cell pyruvate kinase deficiency. Our study implies that exome and genome sequencing will certainly reveal additional rare variation causative for even well-studied classical Mendelian diseases, while also revealing variants that might play a role in complex diseases. Furthermore, our study has clinical and ethical implications for exome and genome sequencing in a research setting; how to handle unrelated findings of clinical significance, in the context of originally planned complex disease research, remains a largely uncharted area for clinicians and researchers.
Indexed as
Identifiers
21794208PMC3544941W1596769642What 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.