ReviewHuman molecular genetics2010
Massively parallel sequencing and rare disease.
Review in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 2 of them syntheses that pooled it.
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
93 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Targeted Sequencing and Meta-Analysis of Preterm Birth.PloS one · 2016Pooled it
- Pooled it
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.International journal of molecular sciences · 2026Article
- Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.Frontiers in endocrinology · 2024Article
- Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.Orphanet journal of rare diseases · 2021Article
- Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management.Wiener medizinische Wochenschrift (1946) · 2021Article
- Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.Molecular syndromology · 2020Article
- SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.PLoS computational biology · 2020Article
- Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.Frontiers in genetics · 2020Review
- Predicting disease-causing variant combinations.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Data Science for Child Health.The Journal of pediatrics · 2019Review
- Sensitive and specific post-call filtering of genetic variants in xenograft and primary tumors.Bioinformatics (Oxford, England) · 2018Article
- Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies.PloS one · 2018Article
- Whole Genome Sequencing of Greater Amberjack (International journal of genomics · 2018Article
- Clinical interpretation of copy number variants in the human genome.Journal of applied genetics · 2017Review
- Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.The Journal of biological chemistry · 2017Article
- The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.Human mutation · 2017Article
- Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.American journal of human genetics · 2016Article
- Whole exome sequencing in patients with white matter abnormalities.Annals of neurology · 2016Article
- Genomics of Immune Diseases and New Therapies.Annual review of immunology · 2016Review
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
4 authors.
Funding
Abstract
Massively parallel sequencing has enabled the rapid, systematic identification of variants on a large scale. This has, in turn, accelerated the pace of gene discovery and disease diagnosis on a molecular level and has the potential to revolutionize methods particularly for the analysis of Mendelian disease. Using massively parallel sequencing has enabled investigators to interrogate variants both in the context of linkage intervals and also on a genome-wide scale, in the absence of linkage information entirely. The primary challenge now is to distinguish between background polymorphisms and pathogenic mutations. Recently developed strategies for rare monogenic disorders have met with some early success. These strategies include filtering for potential causal variants based on frequency and function, and also ranking variants based on conservation scores and predicted deleteriousness to protein structure. Here, we review the recent literature in the use of high-throughput sequence data and its analysis in the discovery of causal mutations for rare disorders.
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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.