ReviewHuman molecular genetics2010
Exome sequencing: the sweet spot before whole genomes.
Review in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03084224 (Implementation of Molecular Diagnostic Pathways in Neurological and Neurodegenerative Diseases), which is not on this map. Cited by 155 papers, 4 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.
Implementation of Molecular Diagnostic Pathways in Neurological and Neurodegenerative Diseases
Who cites it
155 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Copy Number Variants in Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2017Pooled it
- The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.Journal of medical genetics · 2015Guideline
- Family-based analysis identified CD2 as a susceptibility gene for primary open angle glaucoma in Chinese Han population.Journal of cellular and molecular medicine · 2014Pooled it
- Hip ontogenesis: how evolution, genes, and load history shape hip morphotype and cartilotype.Clinical orthopaedics and related research · 2012Pooled it
- Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.Journal of pediatric gastroenterology and nutrition · 2018Trial
- The impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiology.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015Trial
- Advances in mutant characterization for detecting causal mutations in crop plants.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2026Review
- Advancements in Pathogenic Genes and Biomarkers for Non-syndromic Cleft Lip With or Without Cleft Palate Via Multiomics.International dental journal · 2026Review
- Performance comparison of germline variant calling tools in sporadic disease cohorts.Molecular genetics and genomics : MGG · 2025Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Exome-wide comparative analyses revealed differentiating genomic regions for performance traits in Indian native buffaloes.Animal biotechnology · 2024Article
- Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Canine Somatic Mutations from Whole-Exome Sequencing of B-Cell Lymphomas in Six Canine Breeds-A Preliminary Study.Animals : an open access journal from MDPI · 2023Article
- Review
- Different perspectives on translational genomics in personalized medicineJournal of the Turkish German Gynecological Association · 2022Article
- A novel causative functional mutation in GATA6 gene is responsible for familial dilated cardiomyopathy as supported by in silico functional analysis.Scientific reports · 2022Article
- Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.PLoS genetics · 2022Article
- M-DATA: A statistical approach to jointly analyzing de novo mutations for multiple traits.PLoS genetics · 2021Article
- Long-read technologies identify a hidden inverted duplication in a family with choroideremia.HGG advances · 2021Article
- Integrative modeling of transmitted andQuantitative biology (Beijing, China) · 2021Article
95 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
2 authors.
Funding
Abstract
The development of massively parallel sequencing technologies, coupled with new massively parallel DNA enrichment technologies (genomic capture), has allowed the sequencing of targeted regions of the human genome in rapidly increasing numbers of samples. Genomic capture can target specific areas in the genome, including genes of interest and linkage regions, but this limits the study to what is already known. Exome capture allows an unbiased investigation of the complete protein-coding regions in the genome. Researchers can use exome capture to focus on a critical part of the human genome, allowing larger numbers of samples than are currently practical with whole-genome sequencing. In this review, we briefly describe some of the methodologies currently used for genomic and exome capture and highlight recent applications of this technology.
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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.