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  1. The recent publication of the draft genome sequences of the Neanderthal and a ~50,000-year-old archaic hominin from Denisova Cave in southern Siberia has ushered in a new age in molecular archaeology. We previ...

    Authors: Guojie Zhang, Zhang Pei, Edward V Ball, Matthew Mort, Hildegard Kehrer-Sawatzki and David N Cooper
    Citation: Human Genomics 2011 5:453
  2. The development and progression of colorectal cancer (CRC) is a multi-step process, and the Wnt pathways with its two molecular gladiators adenomatous polyposis coli (APC) and β-catenin plays an important role in...

    Authors: A Syed Sameer, Zaffar A Shah, Safiya Abdullah, Nissar A Chowdri and Mushtaq A Siddiqi
    Citation: Human Genomics 2011 5:441
  3. Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD prevalence increases with age, clinical phenotypes are...

    Authors: Gregory S Hageman, Karen Gehrs, Serguei Lejnine, Aruna T Bansal, Margaret M DeAngelis, Robyn H Guymer, Paul N Baird, Rando Allikmets, Cosmin Deciu, Paul Oeth and Lorah T Perlee
    Citation: Human Genomics 2011 5:420
  4. The focus of this review is software for the genotyping of microarray single nucleotide polymorphisms, in particular software for Affymetrix and Illumina arrays. Different statistical principles and ideas have...

    Authors: Philippe Lamy, Jakob Grove and Carsten Wiuf
    Citation: Human Genomics 2011 5:304
  5. Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation of molecules that are important in cel...

    Authors: Brian Jackson, Chad Brocker, David C Thompson, William Black, Konstandinos Vasiliou, Daniel W Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2011 5:283
  6. Our knowledge of pharmacogenetic variability in diverse populations is scarce, especially in sub-Saharan Africa. To bridge this gap in knowledge, we characterised population frequencies of clinically relevant ...

    Authors: Ogechi Ikediobi, Bradley Aouizerat, Yuanyuan Xiao, Monica Gandhi, Stefan Gebhardt and Louise Warnich
    Citation: Human Genomics 2011 5:265
  7. 'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untran...

    Authors: Stephen E Hamby, Nick ST Thomas, David N Cooper and Nadia Chuzhanova
    Citation: Human Genomics 2011 5:241
  8. Recent advances in high-throughput sequencing have facilitated the genome-wide studies of small non-coding RNAs (sRNAs). Numerous studies have highlighted the role of various classes of sRNAs at different leve...

    Authors: Eneritz Agirre and Eduardo Eyras
    Citation: Human Genomics 2011 5:192
  9. DNA mutation data currently reside in many online databases, which differ markedly in the terminology used to describe or define the mutation and also in completeness of content, potentially making it difficul...

    Authors: Elizabeth A Webb, Timothy D Smith and Richard GH Cotton
    Citation: Human Genomics 2011 5:141
  10. The Rat Genome Database (RGD) (http://​rgd.​mcw.​edu) provides a comprehensive platform for comparative genomics and genetics research. RGD houses gene, QTL and...

    Authors: Mary Shimoyama, Jennifer R. Smith, Tom Hayman, Stan Laulederkind, Tim Lowry, Rajni Nigam, Victoria Petri, Shur-Jen Wang, Melinda Dwinell and Howard Jacob
    Citation: Human Genomics 2011 5:124
  11. Chromatin immunoprecipitation followed by massively parallel next-generation sequencing (ChIP-seq) is a valuable experimental strategy for assaying protein-DNA interaction over the whole genome. Many computati...

    Authors: Hyunmin Kim, Jihye Kim, Heather Selby, Dexiang Gao, Tiejun Tong, Tzu Lip Phang and Aik Choon Tan
    Citation: Human Genomics 2011 5:117
  12. Type 2 diabetes represents an increasing health burden. Its prevalence is rising among younger age groups and differs among racial/ethnic groups. Little is known about its genetic basis, including whether ther...

    Authors: Yann C. Klimentidis, Jasmin Divers, Krista Casazza, T. Mark Beasley, David B. Allison and Jose R. Fernandez
    Citation: Human Genomics 2011 5:79
  13. High-throughput RNA sequencing is rapidly emerging as a favourite method for gene expression studies. We review three software packages -- edgeR, DEGseq and baySeq -- from Bioconductor

    Authors: Dexiang Gao, Jihye Kim, Hyunmin Kim, Tzu L Phang, Heather Selby, Aik Choon Tan and Tiejun Tong
    Citation: Human Genomics 2010 5:56
  14. Cytokines play a very important role in nearly all aspects of inflammation and immunity. The term 'interleukin' (IL) has been used to describe a group of cytokines with complex immunomodulatory functions -- in...

    Authors: Chad Brocker, David Thompson, Akiko Matsumoto, Daniel W Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2010 5:30
  15. Breast cancer tumours among African Americans are usually more aggressive than those found in Caucasian populations. African-American patients with breast cancer also have higher mortality rates than Caucasian...

    Authors: Herbert Pang, Keita Ebisu, Emi Watanabe, Laura Y Sue and Tiejun Tong
    Citation: Human Genomics 2010 5:5
  16. Consanguineous families affected with a recessive genetic disease caused by homozygotisation of a mutation offer a unique advantage for positional cloning of rare diseases. Homozygosity mapping of patient geno...

    Authors: El-Ad David Amir, Ofer Bartal, Efrat Morad, Tal Nagar, Jony Sheynin, Ruti Parvari and Vered Chalifa-Caspi
    Citation: Human Genomics 2010 4:394
  17. Copy number variants (CNVs) create a major source of variation among individuals and populations. Array-based comparative genomic hybridisation (aCGH) is a powerful method used to detect and compare the copy n...

    Authors: Anis Karimpour-Fard, Laura Dumas, Tzulip Phang, James M Sikela and Lawrence E Hunter
    Citation: Human Genomics 2010 4:421
  18. The acyl-CoA thioesterase gene (ACOT) family encodes enzymes that catalyse the hydrolysis of acyl-CoA thioester compounds, also known as activated fatty acids, to their corresponding non-esterified (free) fatty a...

    Authors: Chad Brocker, Christopher Carpenter, Daniel W Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2010 4:411
  19. The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation ...

    Authors: David N Cooper, Matthew Mort, Peter D Stenson, Edward V Ball and Nadia A Chuzhanova
    Citation: Human Genomics 2010 4:406
  20. The cytochrome P450 enzymes active in drug metabolism are highly polymorphic. Most allelic variants have been described for enzymes encoded by the cytochrome P450 family 2 (CYP2) gene family, which has 252 dif...

    Authors: Magnus Ingelman-Sundberg and Sarah C Sim
    Citation: Human Genomics 2010 4:402
  21. A 130 base pair (bp) insertion (g.-8delCins130) into the 5' untranslated region of the PAFAH1B1 (LIS1) gene, seven nucleotides upstream of the translational initiation site, was detected in an isolated case of li...

    Authors: David S Millar, Carolyn Tysoe, Lazarus P Lazarou, Daniela T Pilz, Shehla Mohammed, Katharine Anderson, Nadia Chuzhanova, David N Cooper and Rachel Butler
    Citation: Human Genomics 2010 4:384
  22. Polymorphisms in the endothelial nitric oxide synthase (eNOS) gene (-786T >C and 894G >T) enhance endo-thelial dysfunction and have been studied in relation to coronary artery disease (CAD). In the present study,...

    Authors: Georgia Ragia, Eleftherios Nikolaidis, Anna Tavridou, Kostas I Arvanitidis, Stavroula Kanoni, George V Dedoussis, George Bougioukas and Vangelis G Manolopoulos
    Citation: Human Genomics 2010 4:375
  23. National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources fac...

    Authors: Sjozef van Baal, Joël Zlotogora, George Lagoumintzis, Vassiliki Gkantouna, Ioannis Tzimas, Konstantinos Poulas, Athanassios Tsakalidis, Giovanni Romeo and George P Patrinos
    Citation: Human Genomics 2010 4:361
  24. The forkhead box (FOX) proteins are transcription factors that play complex and important roles in processes from development and organogenesis to regulation of metabolism and the immune system. There are 50 FOX ...

    Authors: Brian C. Jackson, Christopher Carpenter, Daniel W. Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2010 4:345
  25. The +1169A allele of the A/T single nucleotide polymorphism (SNP; rs2665802), located within intron 4 of the human growth hormone I (GHI) gene, has been associated with reduced levels of circulating GH and insuli...

    Authors: David S. Millar, Martin Horan, Nadia A. Chuzhanova and David N. Cooper
    Citation: Human Genomics 2010 4:289

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