56 research outputs found

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    The streamlined genome of Phytomonas spp. relative to human pathogenic kinetoplastids reveals a parasite tailored for plants

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    Members of the family Trypanosomatidae infect many organisms, including animals, plants and humans. Plant-infecting trypanosomes are grouped under the single genus Phytomonas, failing to reflect the wide biological and pathological diversity of these protists. While some Phytomonas spp. multiply in the latex of plants, or in fruit or seeds without apparent pathogenicity, others colonize the phloem sap and afflict plants of substantial economic value, including the coffee tree, coconut and oil palms. Plant trypanosomes have not been studied extensively at the genome level, a major gap in understanding and controlling pathogenesis. We describe the genome sequences of two plant trypanosomatids, one pathogenic isolate from a Guianan coconut and one non-symptomatic isolate from Euphorbia collected in France. Although these parasites have extremely distinct pathogenic impacts, very few genes are unique to either, with the vast majority of genes shared by both isolates. Significantly, both Phytomonas spp. genomes consist essentially of single copy genes for the bulk of their metabolic enzymes, whereas other trypanosomatids e.g. Leishmania and Trypanosoma possess multiple paralogous genes or families. Indeed, comparison with other trypanosomatid genomes revealed a highly streamlined genome, encoding for a minimized metabolic system while conserving the major pathways, and with retention of a full complement of endomembrane organelles, but with no evidence for functional complexity. Identification of the metabolic genes of Phytomonas provides opportunities for establishing in vitro culturing of these fastidious parasites and new tools for the control of agricultural plant disease. © 2014 Porcel et al

    Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

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    Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

    Results of the 1989 Illinois Deer Hunter Survey

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    ID: 860; Administrative Report No. 1Report issued on: September 14, 199

    Results of the 1994 Illinois Firearm Deer Hunter Survey

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    Job Completion Report, Administrative Report, As required by Federal Aid in Wildlife Restoration Act, Federal Aid Project No. W-112-R, Job No. 2Report issued on: June 24, 199

    Results of the 1992-93 Illinois Bowhunter Survey

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    Administrative Report, As Required by Federal Aid in Wildlife Restoration Act Illinois, Federal Aid Project Number: W-112-RReport issued on: March 10, 199

    Population dynamics of the Illinois deer herd W-87-R-12, Annual Report July 1, 1989 - June 30, 1990

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    Annual Report July 1, 1989 - June 30, 1990 issued June 30, 1990Report issued on: June 30, 1990INHS Technical Report prepared for unspecified recipien

    Age, Sex, Reproductive Characteristics and Harvest of Wisconsin Red Fox

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    A sample of 203 red fox (Vulpes vulpes) were collected from three ecologically distinct areas of Wisconsin during 1972-73. The sex ratio of the statewide sample is 55 percent males to 45 percent females. Sex ratios (male:female) for the Northern, Southern and Western study areas are 56:44, 54:46 and 56:44 respectively. Mean potential litter size, calculated by counting placental scars and uterine swellings, is 4.5. Comparison between placental scars and uterine swellings indicate a possible 24 percent loss due to interuterine mortality. Mean age of the sample, obtained by cross sectioning the fourth premolar, is 1.6 years with a range of 6 months to 8 years. More foxes were trapped than shot, with a significant difference in age of animals shot. A time-specific life table was constructed which indicates mortality follows a "U" shaped trend with an average expected life span of 1.6 years. The calculated replacement rate of r=0.56 indicates that the population is replacing itself and increasing.Wisconsin Department of Natural Resource
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