ArticleAmerican journal of human genetics2013
Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 44 citations in OpenAlex.
- Article
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- Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.Scientific data · 2023Article
- Landmarks of human embryonic development inscribed in somatic mutations.Science (New York, N.Y.) · 2021Article
- The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.Nature neuroscience · 2021Article
- Large mosaic copy number variations confer autism risk.Nature neuroscience · 2021Article
- Article
- Before and After: Comparison of Legacy and Harmonized TCGA Genomic Data Commons' Data.Cell systems · 2019Article
- Overlooked: Extrachromosomal DNA and Their Possible Impact on Whole Genome Sequencing.The Malaysian journal of medical sciences : MJMS · 2018Review
- Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.Genome research · 2017Article
- Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.American journal of human genetics · 2017Article
- Molecular alterations and tumor suppressive function of the DUSP22 (Dual Specificity Phosphatase 22) gene in peripheral T-cell lymphoma subtypes.Oncotarget · 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
- The Extent of mRNA Editing Is Limited in Chicken Liver and Adipose, but Impacted by Tissular Context, Genotype, Age, and Feeding as Exemplified with a Conserved Edited Site in COG3.G3 (Bethesda, Md.) · 2015Article
- Sealer: a scalable gap-closing application for finishing draft genomes.BMC bioinformatics · 2015Article
- African origins and chronic kidney disease susceptibility in the human immunodeficiency virus era.World journal of nephrology · 2015Review
- Article
- Population frequencies of the Triallelic 5HTTLPR in six Ethnicially diverse samples from North America, Southeast Asia, and Africa.Behavior genetics · 2015Article
- Review
- HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations.Bioinformatics (Oxford, England) · 2014Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
A principal obstacle to completing maps and analyses of the human genome involves the genome's "inaccessible" regions: sequences (often euchromatic and containing genes) that are isolated from the rest of the euchromatic genome by heterochromatin and other repeat-rich sequence. We describe a way to localize these sequences by using ancestry linkage disequilibrium in populations that derive ancestry from at least three continents, as is the case for Latinos. We used this approach to map the genomic locations of almost 20 megabases of sequence unlocalized or missing from the current human genome reference (NCBI Genome GRCh37)-a substantial fraction of the human genome's remaining unmapped sequence. We show that the genomic locations of most sequences that originated from fosmids and larger clones can be admixture mapped in this way, by using publicly available whole-genome sequence data. Genome assembly efforts and future builds of the human genome reference will be strongly informed by this localization of genes and other euchromatic sequences that are embedded within highly repetitive pericentromeric regions.
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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.