Search Results - "human genome"

Ancient human genome sequence of an extinct Palaeo-Eskimo by Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J., Albrechtsen, A., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., Bertalan, M., Nielsen, K., Gilbert, Thomas, Wang, Y., Raghavan, M., Campos, P., Kamp, H., Wilson, A., Gledhill, A., Tridico, S., Bunce, Michael, Lorenzen, E., Binladen, J., Guo, X., Zhao, J., Zhang, X., Zhang, H., Li, Z., Chen, M., Orlando, L., Kristiansen, K., Bak, M., Tommerup, N., Bendixen, C., Pierre, T., Grønnow, B., Meldgaard, M., Andreasen, C., Fedorova, S., Osipova, L., Higham, T., Ramsey, C., Hansen, T., Nielsen, F., Crawford, M., Brunak, S., Sicheritz-Ponten, T., Villems, R., Nielsen, R., Krogh, A., Wang, Jun, Willerslev, E., Moltke, I.

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Nanopore sequencing and assembly of a human genome with ultra-long reads by Jain, M., Koren, S., Miga, K.H., Quick, J., Rand, A.C., Sasani, T.A., Tyson, J.R., Beggs, A.D., Dilthey, A.T., Fiddes, I.T., Malla, S., Marriott, H., Nieto, T., O'Grady, J., Olsen, H.E., Pedersen, B.S., Rhie, A., Richardson, H., Quinlan, A.R., Snutch, T.P., Tee, L., Paten, B., Phillippy, A.M., Simpson, J.T., Loman, N.J., Loose, M.

“…Ultra-long reads enabled assembly and phasing of the 4 Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length and closure of gaps in the reference human genome assembly GRCh38.…”
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A map of human genome variation from population-scale sequencing by Tumian, Afidalina

“…The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. …”
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Novel method for building ancient recombination landscape using archaic human genomes by Tumian, Afidalina

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Genome-wide nucleosome map and cytosine methylation levels of an ancient human genome by Pedersen, J., Valen, E., Velazquez, A., Parker, B., Rasmussen, M., Lindgreen, S., Lilje, B., Tobin, D., Kelly, T., Vang, S., Andersson, R., Jones, P., Hoover, C., Tikhonov, A., Prokhortchouk, E., Rubin, E., Sandelin, A., Gilbert, Thomas, Krogh, A., Willerslev, E., Orlando, L.

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Omics-squared: Human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19 by Blangero, J., Teslovich, T., Sim, X., Almeida, M., Jun, G., Dyer, T., Johnson, M., Peralta, J., Manning, A., Wood, A., Fuchsberger, C., Kent, J., Aguilar, D., Below, J., Farook, V., Arya, R., Fowler, S., Blackwell, T., Puppala, S., Kumar, S., Glahn, D., Moses, Eric, Curran, J., Thameem, F., Jenkinson, C., DeFronzo, R., Lehman, D., Hanis, C., Abecasis, G., Boehnke, M., Göring, H., Duggirala, R., Almasy, L.

“…Here we describe the data distributed for GAW19, which focused on analysis of human genomic and transcriptomic data. Methods: GAW19 data were donated by the T2D-GENES Consortium and the San Antonio Family Heart Study and included whole genome and exome sequences for odd-numbered autosomes, measures of gene expression, systolic and diastolic blood pressures, and related covariates in two Mexican American samples. …”
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Beyond the human genome: microbes, metaphors and what it means to be human in an interconnected post-genomic world by Nerlich, Brigitte, Hellsten, Iina

“…Four years after the completion of the Human Genome Project, the US National Institutes for Health launched the Human Microbiome Project on 19 December 2007. …”
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Piggy-BACing the human genome I: Constructing a porcine BAC physical map through comparative genomics by Rogatcheva, Margarita B, Chen, Kefei, Larkin, D., Meyers, S., Marron, B., He, W., Schook, L., Beever, J.

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Accuracy and efficiency define Bxb1 integrase as the best of fifteen candidate serine recombinases for the integration of DNA into the human genome by Xu, Zhengyao, Thomas, Louise, Davies, Ben, Chalmers, Ronald, Smith, Maggie, Brown, William

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Analysis of candidate genes within the 3p14-p22 region of the human genome for association with bone mineral density phenotypes by Mullin, Benjamin H

“…Multiple genetic linkage studies have identified the 3p14-p22 region of the human genome as a quantitative trait locus for BMD. Therefore, it was hypothesised that one or more genes in this genomic region are significantly associated with BMD in Caucasian women.Based on a review of the literature, the ARHGEF3 gene was identified as a positional candidate in this chromosomal region. …”
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Impact of knowledge / innovation on merger and acquisition success in the pharmaceutical industry: The case of AstraZeneca/Ardea Biosciences and GlaxoSmithKline/Human Genome Sciences by Havard, Victor

“…Through our case study composed of two major mergers (AstraZeneca/Ardea Biosciences and GlaxoSmithKline/Human Genome Sciences) in the context of the pharmaceutical industry, we introduce the variable of knowledge structure to further explain M&A success. …”
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Pharmacogenetics, pharmacogenomics and airway disease by Hall, Ian P.

“…The availability of a draft sequence for the human genome will revolutionise research into airway disease. …”
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Recognition of promoters in DNA sequences using weightily averaged one-dependence estimators by Htike@Muhammad Yusof, Zaw Zaw, Win, Shoon Lei

“…The completion of the human genome project in the last decade has generated a strong demand in computational analysis techniques in order to fully exploit the acquired human genome database. …”
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Classification of eukaryotic splice-junction genetic sequences using averaged one-dependence estimators with subsumption resolution by Htike@Muhammad Yusof, Zaw Zaw, Win, Shoon Lei

“…The completion of the human genome project in the last decade has generated a strong demand in computational analysis techniques in order to fully exploit the acquired human genome database. …”
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Investigation of the origin and spread of a mammalian transposable element based on current sequence diversity by Hellen, Elizabeth H.B., Brookfield, John F.Y.

“…Almost half the human genome consists of mobile DNA elements, and their analysis is a vital part of understanding the human genome as a whole. …”
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Copy number variations of Orang Asli’ (Negrito) from Peninsular Malaysia / Siti Shuhada Mokhtar by Mokhtar, Siti Shuhada

“…Copy number variation (CNV) has been acknowledged as a major contributor to the human genome diversity. This variability covers approximately about 15% of the entire human genome. …”
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Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries by Carpenter, M., Buenrostro, J., Valdiosera, C., Schroeder, H., Allentoft, M., Sikora, M., Rasmussen, M., Gravel, S., Guillen, S., Nekhrizov, G., Leshtakov, K., Dimitrova, D., Theodossiev, N., Petterner, D., Luiselli, D., Sandoval, K., Moreno-Estrada, A., Li, Y., Wang, Jun, Gilbert, Thomas, Willerslev, E., Greenleaf, W., Bustamante, C.

“…Prior to capture, shotgun sequencing of these libraries yielded an average of 1.2% of reads mapping to the human genome (including duplicates). After capture, this fraction increased substantially, with up to 59% of reads mapped to human and enrichment ranging from 6- to 159-fold. …”
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Does genetic polymorphisms affect health? by Ismail, Patimah

“…Among the genetic polymorphisms, SNPs are the most abundant form in the human genome, accounting for more than 90% of all differences among individuals. …”
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The era of genome-wide association studies: Opportunities and challenges for asthma genetics by Zhang, Guicheng, Goldblatt, J., Lesouëf, P.

“…Therefore, there is a need for extensive collaborations in multi-disciplinary research fields, including different environments and populations, to investigate the functional importance of variations in the human genome in relation to asthma pathogenesis. © 2009 The Japan Society of Human Genetics All rights reserved.…”
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An analysis of the feasibility of short read sequencing. by Whiteford, N., Haslam, N., Weber, G., Prügel-Bennett, A., Essex, J.W., Roach, P.L., Bradley, M., Neylon, Cameron

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