The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.Ĭompeting interests: The authors have declared that no competing interests exist. (URL: ).įunding: This study was funded by grants from the US National Institutes of Health ( ). This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.ĭata Availability: All optical mapping files are available from NCBI BioProject database under BioProject PRJNA418343. Received: AugAccepted: OctoPublished: January 27, 2020Ĭopyright: © 2020 Young et al. PLoS Genet 16(1):Įditor: Nancy Maizels, University of Washington School of Medicine, UNITED STATES Based upon these trends we estimate a timeline for the spread of these duplication blocks.Ĭitation: Young E, Abid HZ, Kwok P-Y, Riethman H, Xiao M (2020) Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. The organization and content of some duplicons in subtelomeres appear to show both chromosome arm and population-specific trends. The results catalog many novel long-range subtelomere haplotypes and determine the frequencies and contexts of specific subtelomeric duplicons on each chromosome arm, helping to clarify the currently ambiguous nature of many specific subtelomere structures as represented in the current reference sequence (HG38). Here, we use high throughput optical mapping of large single DNA molecules in nanochannel arrays for 154 human genomes from 26 populations to present a comprehensive look at human subtelomere structure and variation. However, the abundance of large evolutionarily recent segmental duplications and high levels of large structural variations have complicated both the mapping and sequence characterization of human subtelomere regions. We estimate that the linkage map is detectably linked to at least 95% of the DNA in the human genome.Detailed comprehensive knowledge of the structures of individual long-range telomere-terminal haplotypes are needed to understand their impact on telomere function, and to delineate the population structure and evolution of subtelomere regions. By a combination of mathematical linkage analysis and physical localization of selected clones, it was possible to arrange these loci into linkage groups representing 23 human chromosomes. Ībstract: We report the construction of a linkage map of the human genome, based on the pattern of inheritance of 403 polymorphic loci, including 393 RFLPs, in a panel of DNAs from 21 three-generation families. A genetic linkage map of the human genome. More Information Reference:ĭonis-Keller, H., Green, P., Helms, C., Cartinhour, S., Weiffenbach, B., Stephens, K., Keith, T.P., Bowden, D.W., Smith, D.R., Lander, E.S., et al. Tracking which variants are inherited in different people can be used to locate genes responsible for diseases. A genetic map contains landmarks - like RFLPs - that occur in various forms. The first comprehensive genetic map of human chromosomes was based on 400 restriction fragment length polymorphisms (RFLPs), which are variations in DNA sequence that can be observed by digesting DNA with restriction enzymes.

When was human genome mapped