ReviewHuman genetics2011
Revisiting Mendelian disorders through exome sequencing.
Review in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02927158 (Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities), which is not on this map. Cited by 93 papers, 1 of them a synthesis 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.
Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities
Who cites it
93 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.Arteriosclerosis, thrombosis, and vascular biology · 2013Pooled it
- Clinical characteristics and genetic causes of unexplained pediatric liver disease.World journal of hepatology · 2025Article
- Variant ranking pipeline for complex familial disorders.Scientific reports · 2024Article
- Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024Article
- Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.Cellular and molecular life sciences : CMLS · 2023Review
- Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.International journal of developmental disabilities · 2023Article
- Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM).Antioxidants (Basel, Switzerland) · 2022Article
- Genomic and neuroimaging approaches to bipolar disorder.BJPsych open · 2022Review
- Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.Journal of nephrology · 2021Article
- A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.International journal of molecular sciences · 2021Review
- Genomics in medicine: A new era in medicine.World journal of methodology · 2021Article
- A Journey through Genetic Architecture and Predisposition of Coronary Artery Disease.Current genomics · 2020Review
- Whole-genome resequencing reveals genetic indels of feathered-leg traits in domestic chickens.Journal of genetics · 2019Article
- Precision Medicine in Internal Medicine.Annals of internal medicine · 2019Article
- Integrating molecular networks with genetic variant interpretation for precision medicine.Wiley interdisciplinary reviews. Systems biology and medicine · 2019Review
- GRIPT: a novel case-control analysis method for Mendelian disease gene discovery.Genome biology · 2018Article
- Genomic medicine for kidney disease.Nature reviews. Nephrology · 2018Review
- Genetic Susceptibility to Leprosy-From Classic Immune-Related Candidate Genes to Hypothesis-Free, Whole Genome Approaches.Frontiers in immunology · 2018Review
- Xome-Blender: A novel cancer genome simulator.PloS one · 2018Article
- A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
33 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over the past several years, more focus has been placed on dissecting the genetic basis of complex diseases and traits through genome-wide association studies. In contrast, Mendelian disorders have received little attention mainly due to the lack of newer and more powerful methods to study these disorders. Linkage studies have previously been the main tool to elucidate the genetics of Mendelian disorders; however, extremely rare disorders or sporadic cases caused by de novo variants are not amendable to this study design. Exome sequencing has now become technically feasible and more cost-effective due to the recent advances in high-throughput sequence capture methods and next-generation sequencing technologies which have offered new opportunities for Mendelian disorder research. Exome sequencing has been swiftly applied to the discovery of new causal variants and candidate genes for a number of Mendelian disorders such as Kabuki syndrome, Miller syndrome and Fowler syndrome. In addition, de novo variants were also identified for sporadic cases, which would have not been possible without exome sequencing. Although exome sequencing has been proven to be a promising approach to study Mendelian disorders, several shortcomings of this method must be noted, such as the inability to capture regulatory or evolutionary conserved sequences in non-coding regions and the incomplete capturing of all exons.
Indexed as
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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.