ArticleNature genetics2013
Using population admixture to help complete maps of the human genome.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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.
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.
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Who cites it
42 citing papers in PubMed, 72 citations in OpenAlex.
- Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population.Journal of human genetics · 2026Article
- Complete genomic and epigenetic maps of human centromeres.Science (New York, N.Y.) · 2022Article
- Uniform genomic data analysis in the NCI Genomic Data Commons.Nature communications · 2021Article
- Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- 22q11.2 Low Copy Repeats Expanded in the Human Lineage.Frontiers in genetics · 2021Article
- Centromere studies in the era of 'telomere-to-telomere' genomics.Experimental cell research · 2020Review
- The impact of post-alignment processing procedures on whole-exome sequencing data.Genetics and molecular biology · 2020Article
- The 22q11 low copy repeats are characterized by unprecedented size and structural variability.Genome research · 2019Article
- Multi-platform discovery of haplotype-resolved structural variation in human genomes.Nature communications · 2019Article
- The Progress of Multi-Omics Technologies: Determining Function in Lactic Acid Bacteria Using a Systems Level Approach.Frontiers in microbiology · 2019Review
- Long-Read Sequencing Emerging in Medical Genetics.Frontiers in genetics · 2019Review
- FORGe: prioritizing variants for graph genomes.Genome biology · 2018Article
- Comprehensive variation discovery and recovery of missing sequence in the pig genome using multiple de novo assemblies.Genome research · 2017Article
- Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.Genome research · 2017Article
- Genomic Rearrangements inGenetics · 2017Article
- Diversity in non-repetitive human sequences not found in the reference genome.Nature genetics · 2017Article
- Genetic Diversity, Population Structure and Ancestral Origin of Australian Wheat.Frontiers in plant science · 2017Article
- Molecular alterations and tumor suppressive function of the DUSP22 (Dual Specificity Phosphatase 22) gene in peripheral T-cell lymphoma subtypes.Oncotarget · 2016Article
- Human genetic variation database, a reference database of genetic variations in the Japanese population.Journal of human genetics · 2016Article
- Discrepancies between human DNA, mRNA and protein reference sequences and their relation to single nucleotide variants in the human population.Database : the journal of biological databases and curation · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
Tens of millions of base pairs of euchromatic human genome sequence, including many protein-coding genes, have no known location in the human genome. We describe an approach for localizing the human genome's missing pieces using the patterns of genome sequence variation created by population admixture. We mapped the locations of 70 scaffolds spanning 4 million base pairs of the human genome's unplaced euchromatic sequence, including more than a dozen protein-coding genes, and identified 8 new large interchromosomal segmental duplications. We find that most of these sequences are hidden in the genome's heterochromatin, particularly its pericentromeric regions. Many cryptic, pericentromeric genes are expressed at the RNA level and have been maintained intact for millions of years while their expression patterns diverged from those of paralogous genes elsewhere in the genome. We describe how knowledge of the locations of these sequences can inform disease association and genome biology studies.
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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.