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  3. 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
    Content type: Software review Published on:

  6. 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
    Content type: Primary research Published on:

  8. 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
    Content type: Genome databases Published on:

  9. 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
    Content type: Software review Published on:

  13. 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
    Content type: Primary research Published on:

  18. 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
    Content type: Software review Published on:

  19. 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
    Content type: Genome update Published on:

  21. 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
    Content type: Primary research Published on:

  23. 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
    Content type: Primary research Published on:

  24. 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
    Content type: Software review Published on:

  27. 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
    Content type: Genome update Published on:

  28. 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
    Content type: Review Published on:

  29. 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
    Content type: Review Published on:

  30. 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
    Content type: Primary research Published on:

  31. 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
    Content type: Primary research Published on:

  34. 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
    Content type: Genome databases Published on:

  36. 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
    Content type: Genome update Published on:

  37. Despite the fact that ribosomal proteins are the constituents of an organelle that is present in every cell, they show a surprising level of regulation, and several of them have also been shown to have other e...

    Authors: Rital B. Bhavsar, Leah N. Makley and Panagiotis A. Tsonis
    Citation: Human Genomics 2010 4:327
    Content type: Review Published on:

  38. Longitudinal studies are an important tool for analysing traits that change over time, depending on individual characteristics and environmental exposures. Complex quantitative traits, such as lung function, m...

    Authors: Hortensia Moreno-Macias, Isabelle Romieu, Stephanie J London and Nan M Laird
    Citation: Human Genomics 2010 4:302
    Content type: Primary research Published on:

  39. 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
    Content type: Primary research Published on:

  43. Pharmacogenetics affects both pharmacokinetics and pharmacodynamics, thereby influencing an individual's response to drugs, both in terms of response and adverse reactions. Within the area of pharmacogenetics,...

    Authors: Sarah C Sim and Magnus Ingelman-Sundberg
    Citation: Human Genomics 2010 4:278
    Content type: Genome databases Published on:

  45. Krüppel-like factors (KLFs), members of the zinc-finger family of transcription factors capable of binding GC-rich sequences, have emerged as critical regulators of important functions all over the body. They ...

    Authors: Shivalingappa K Swamynathan
    Citation: Human Genomics 2010 4:263
    Content type: Genome update Published on:

  46. The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin de...

    Authors: Gunda Millonig, Martina U Muckenthaler and Sebastian Mueller
    Citation: Human Genomics 2010 4:250
    Content type: Review Published on:
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Human Genomics

ISSN: 1479-7364