ArticlePloS one2009
Mapping insertions, deletions and SNPs on Venter's chromosomes.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2018Article
- Segmenting the Human Genome into Isochores.Evolutionary bioinformatics online · 2015Article
- Chromosome Architecture and Genome Organization.PloS one · 2015Article
- MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping.PloS one · 2014Article
- Alu elements: know the SINEs.Genome biology · 2011Review
- Isochores and the regulation of gene expression in the human genome.Genome biology and evolution · 2011Article
- A genome-wide view of mutation rate co-variation using multivariate analyses.Genome biology · 2011Article
- Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.BMC medical genetics · 2010Article
- A time-invariant principle of genome evolution.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.American journal of human genetics · 2010Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe very recent availability of fully sequenced individual human genomes is a major revolution in biology which is certainly going to provide new insights into genetic diseases and genomic rearrangements.
resultsWe mapped the insertions, deletions and SNPs (single nucleotide polymorphisms) that are present in Craig Venter's genome, more precisely on chromosomes 17 to 22, and compared them with the human reference genome hg17. Our results show that insertions and deletions are almost absent in L1 and generally scarce in L2 isochore families (GC-poor L1+L2 isochores represent slightly over half of the human genome), whereas they increase in GC-rich isochores, largely paralleling the densities of genes, retroviral integrations and Alu sequences. The distributions of insertions/deletions are in striking contrast with those of SNPs which exhibit almost the same density across all isochore families with, however, a trend for lower concentrations in gene-rich regions.
conclusionsOur study strongly suggests that the distribution of insertions/deletions is due to the structure of chromatin which is mostly open in gene-rich, GC-rich isochores, and largely closed in gene-poor, GC-poor isochores. The different distributions of insertions/deletions and SNPs are clearly related to the two different responsible mechanisms, namely recombination and point mutations.
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