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  1. Primary research

    Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

    The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese orig...

    Binh Ho Duy, Lidiia Zhytnik, Katre Maasalu, Ivo Kändla, Ele Prans, Ene Reimann, Aare Märtson and Sulev Kõks

    Human Genomics 2016 10:27

    Published on: 12 August 2016

  2. Research

    Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease

    Chronic inflammation has been widely considered to be the major risk factor of coronary heart disease (CHD). The goal of our study was to explore the possible association with CHD for inflammation-related sing...

    Xiaomin Chen, Xiaoying Chen, Yan Xu, William Yang, Nan Wu, Huadan Ye, Jack Y. Yang, Qingxiao Hong, Yanfei Xin, Mary Qu Yang, Youping Deng and Shiwei Duan

    Human Genomics 2016 10(Suppl 2):21

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  3. Research

    The up-regulation of Myb may help mediate EGCG inhibition effect on mouse lung adenocarcinoma

    Green tea polyphenol epigallocatechin-3-gallate (EGCG) has been demonstrated to inhibit cancer in experimental studies through its antioxidant activity and modulations on cellular functions by binding specific...

    Hong Zhou, Joseph Manthey, Ekaterina Lioutikova, William Yang, Kenji Yoshigoe, Mary Qu Yang and Hong Wang

    Human Genomics 2016 10(Suppl 2):19

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  4. Research

    The clinical significance of snail protein expression in gastric cancer: a meta-analysis

    Snail is a typical transcription factor that could induce epithelial-mesenchymal transition (EMT) and cancer progression. There are some related reports about the clinical significance of snail protein express...

    Xiaoya Chen, Jinjun Li, Ling Hu, William Yang, Lili Lu, Hongyan Jin, Zexiong Wei, Jack Y. Yang, Hamid R. Arabnia, Jun S. Liu, Mary Qu Yang and Youping Deng

    Human Genomics 2016 10(Suppl 2):22

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  5. Research

    Identification of protein complexes from multi-relationship protein interaction networks

    Protein complexes play an important role in biological processes. Recent developments in experiments have resulted in the publication of many high-quality, large-scale protein-protein interaction (PPI) dataset...

    Xueyong Li, Jianxin Wang, Bihai Zhao, Fang-Xiang Wu and Yi Pan

    Human Genomics 2016 10(Suppl 2):17

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  6. Research

    Hypomethylation coordinates antagonistically with hypermethylation in cancer development: a case study of leukemia

    Methylation changes are frequent in cancers, but understanding how hyper- and hypomethylated region changes coordinate, associate with genomic features, and affect gene expression is needed to better understan...

    Garima Kushwaha, Mikhail Dozmorov, Jonathan D. Wren, Jing Qiu, Huidong Shi and Dong Xu

    Human Genomics 2016 10(Suppl 2):18

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  7. Research

    A comparative study of k-spectrum-based error correction methods for next-generation sequencing data analysis

    Innumerable opportunities for new genomic research have been stimulated by advancement in high-throughput next-generation sequencing (NGS). However, the pitfall of NGS data abundance is the complication of dis...

    Isaac Akogwu, Nan Wang, Chaoyang Zhang and Ping Gong

    Human Genomics 2016 10(Suppl 2):20

    Published on: 25 July 2016

    This article is part of a Supplement: Volume 10 Supplement 2

  8. Primary research

    Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

    The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability.

    Periklis Makrythanasis, Michel Guipponi, Federico A. Santoni, Maha Zaki, Mahmoud Y. Issa, Muhammad Ansar, Hanan Hamamy and Stylianos E. Antonarakis

    Human Genomics 2016 10:26

    Published on: 16 July 2016

  9. Primary research

    Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

    In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary “Genome Clinic Task Force” at th...

    S. Fokstuen, P. Makrythanasis, E. Hammar, M. Guipponi, E. Ranza, K. Varvagiannis, F. A. Santoni, M. Albarca-Aguilera, M. E. Poleggi, F. Couchepin, C. Brockmann, A. Mauron, S. A. Hurst, C. Moret, C. Gehrig, A. Vannier…

    Human Genomics 2016 10:24

    Published on: 28 June 2016

  10. Opinion article

    Proposed nomenclature for microhaplotypes

    Microhaplotypes are a new type of genetic marker in forensics and population genetics. A standardized nomenclature is desirable. A simple approach that does not require a central authority for approval is prop...

    Kenneth K. Kidd

    Human Genomics 2016 10:16

    Published on: 17 June 2016

  11. Primary research

    Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population

    After coronary stenting, the risk of developing restenosis is from 20 to 35 %. The aim of the present study is to investigate the association of genetic variation in candidate genes in patients diagnosed with ...

    Elena V. Zholdybayeva, Yerkebulan A. Talzhanov, Akbota M. Aitkulova, Pavel V. Tarlykov, Gulmira N. Kulmambetova, Aisha N. Iskakova, Aliya U. Dzholdasbekova, Olga A. Visternichan, Dana Zh. Taizhanova and Yerlan M. Ramanculov

    Human Genomics 2016 10:15

    Published on: 8 June 2016

  12. Meeting Abstracts

    Human genome meeting 2016

    O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder

    A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson, R. Polimanti, J. Gelernter, X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen…

    Human Genomics 2016 10(Suppl 1):12

    Published on: 26 May 2016

    This article is part of a Supplement: Volume 10 Supplement 1

  13. Primary research

    Exploring the interaction among EPHX1, GSTP1, SERPINE2, and TGFB1 contributing to the quantitative traits of chronic obstructive pulmonary disease in Chinese Han population

    Currently, the majority of genetic association studies on chronic obstructive pulmonary disease (COPD) risk focused on identifying the individual effects of single nucleotide polymorphisms (SNPs) as well as th...

    Li An, Yingxiang Lin, Ting Yang and Lin Hua

    Human Genomics 2016 10:13

    Published on: 18 May 2016

  14. Primary research

    Multiplex SNaPshot—a new simple and efficient CYP2D6 and ADRB1 genotyping method

    Reliable, inexpensive, high-throughput genotyping methods are required for clinical trials. Traditional assays require numerous enzyme digestions or are too expensive for large sample volumes. Our objective wa...

    Songtao Ben, Rhonda M. Cooper-DeHoff, Hanna K. Flaten, Oghenero Evero, Tracey M. Ferrara, Richard A. Spritz and Andrew A. Monte

    Human Genomics 2016 10:11

    Published on: 23 April 2016

  15. Gene family update

    Organization, evolution and functions of the human and mouse Ly6/uPAR family genes

    Members of the lymphocyte antigen-6 (Ly6)/urokinase-type plasminogen activator receptor (uPAR) superfamily of proteins are cysteine-rich proteins characterized by a distinct disulfide bridge pattern that creat...

    Chelsea L. Loughner, Elspeth A. Bruford, Monica S. McAndrews, Emili E. Delp, Sudha Swamynathan and Shivalingappa K. Swamynathan

    Human Genomics 2016 10:10

    Published on: 21 April 2016

  16. Letter to the Editor

    Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry

    The knowledge of the individual genetic “status” in the prenatal era is particularly relevant in the case of positive family history for genetic diseases, in advanced maternal age and in the general screening ...

    Adalgisa Pietropolli, Maria Vittoria Capogna, Raffaella Cascella, Chiara Germani, Valentina Bruno, Claudia Strafella, Simona Sarta, Carlo Ticconi, Giusy Marmo, Sara Gallaro, Giuliana Longo, Luigi Tonino Marsella, Antonio Novelli, Giuseppe Novelli, Emilio Piccione and Emiliano Giardina

    Human Genomics 2016 10:9

    Published on: 4 April 2016

  17. Primary research

    The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians

    Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide. Many genetic and environmental risk factors including atherogenic dyslipidemia contribute towards the development of CAD. ...

    Cyril Cyrus, Chittibabu Vatte, Awatif Al-Nafie, Shahanas Chathoth, Rudaynah Al-Ali, Abdullah Al-Shehri, Mohammed Shakil Akhtar, Mohammed Almansori, Fahad Al-Muhanna, Brendan Keating and Amein Al-Ali

    Human Genomics 2016 10:8

    Published on: 2 March 2016

  18. Reviewer acknowledgement

    Reviewer acknowledgement 2015

    The Editors of Human Genomics would like to thank all our reviewers who have contributed to the journal in volume 9 (2015).

    Vasilis Vasiliou

    Human Genomics 2016 10:7

    Published on: 15 February 2016

  19. Review

    A review of the new HGNC gene family resource

    The HUGO Gene Nomenclature Committee (HGNC) approves unique gene symbols and names for human loci. As well as naming genomic loci, we manually curate genes into family sets based on shared characteristics such...

    Kristian A Gray, Ruth L Seal, Susan Tweedie, Mathew W Wright and Elspeth A Bruford

    Human Genomics 2016 10:6

    Published on: 3 February 2016

  20. Primary research

    The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies

    Precision medicine in oncology relies on rapid associations between patient-specific variations and targeted therapeutic efficacy. Due to the advancement of genomic analysis, a vast literature characterizing c...

    Sara E. Patterson, Rangjiao Liu, Cara M. Statz, Daniel Durkin, Anuradha Lakshminarayana and Susan M. Mockus

    Human Genomics 2016 10:4

    Published on: 16 January 2016

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