ArticlePloS one2012
Limitations of the human reference genome for personalized genomics.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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.
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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.
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Who cites it
47 citing papers in PubMed.
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- African Pan Genome Contigs Expose Biologically Relevant Sequence Still Hidden from Human Reference Frameworks.bioRxiv : the preprint server for biology · 2026Article
- Next-Generation Whole-Exome Pattern: Advanced Methods and Clinical Significance.Current gene therapy · 2026Review
- Protective alleles and precision healthcare in crewed spaceflight.Nature communications · 2024Review
- The black honey bee genome: insights on specific structural elements and a first step towards pangenomes.Genetics, selection, evolution : GSE · 2024Article
- Ethical considerations for the age of non-governmental space exploration.Nature communications · 2024Review
- Transcriptomics analysis reveals molecular alterations underpinning spaceflight dermatology.Communications medicine · 2024Article
- A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Spatial omics technologies at multimodal and single cell/subcellular level.Genome biology · 2022Review
- From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research.Life (Basel, Switzerland) · 2022Review
- Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples.Genome biology · 2022Article
- A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.Translational pediatrics · 2022Review
- Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis.Nature communications · 2022Article
- Pan-human consensus genome significantly improves the accuracy of RNA-seq analyses.Genome research · 2022Article
- Loop-Mediated Isothermal Amplification Detection of SARS-CoV-2 and Myriad Other Applications.Journal of biomolecular techniques : JBT · 2021Review
- A Population-Specific Major Allele Reference Genome From The United Arab Emirates Population.Frontiers in genetics · 2021Article
- UniqueNAR cancer · 2020Article
- Prospective avenues for human population genomics and disease mapping in southern Africa.Molecular genetics and genomics : MGG · 2020Review
- Structural variant identification and characterization.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2020Article
- NUQA: Estimating Cancer Spatial and Temporal Heterogeneity and Evolution through Alignment-Free Methods.Molecular biology and evolution · 2019Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Data from the 1000 genomes project (1KGP) and Complete Genomics (CG) have dramatically increased the numbers of known genetic variants and challenge several assumptions about the reference genome and its uses in both clinical and research settings. Specifically, 34% of published array-based GWAS studies for a variety of diseases utilize probes that overlap unanticipated single nucleotide polymorphisms (SNPs), indels, or structural variants. Linkage disequilibrium (LD) block length depends on the numbers of markers used, and the mean LD block size decreases from 16 kb to 7 kb,when HapMap-based calculations are compared to blocks computed from1KGP data. Additionally, when 1KGP and CG variants are compared, 19% of the single nucleotide variants (SNVs) reported from common genomes are unique to one dataset; likely a result of differences in data collection methodology, alignment of reads to the reference genome, and variant-calling algorithms. Together these observations indicate that current research resources and informatics methods do not adequately account for the high level of variation that already exists in the human population and significant efforts are needed to create resources that can accurately assess personal genomics for health, disease, and predict treatment outcomes.
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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.