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  1. 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...

    Authors: Isaac Akogwu, Nan Wang, Chaoyang Zhang and Ping Gong
    Citation: Human Genomics 2016 10(Suppl 2):20

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

  2. 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...

    Authors: Garima Kushwaha, Mikhail Dozmorov, Jonathan D. Wren, Jing Qiu, Huidong Shi and Dong Xu
    Citation: Human Genomics 2016 10(Suppl 2):18

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

  3. 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...

    Authors: Xueyong Li, Jianxin Wang, Bihai Zhao, Fang-Xiang Wu and Yi Pan
    Citation: Human Genomics 2016 10(Suppl 2):17

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

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

    Authors: Periklis Makrythanasis, Michel Guipponi, Federico A. Santoni, Maha Zaki, Mahmoud Y. Issa, Muhammad Ansar, Hanan Hamamy and Stylianos E. Antonarakis
    Citation: Human Genomics 2016 10:26
  5. 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...

    Authors: 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…
    Citation: Human Genomics 2016 10:24
  6. 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...

    Authors: Kenneth K. Kidd
    Citation: Human Genomics 2016 10:16
  7. 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 ...

    Authors: 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
    Citation: Human Genomics 2016 10:15
  8. O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder

    Authors: 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…
    Citation: Human Genomics 2016 10(Suppl 1):12

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

  9. 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...

    Authors: Li An, Yingxiang Lin, Ting Yang and Lin Hua
    Citation: Human Genomics 2016 10:13
  10. 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...

    Authors: Songtao Ben, Rhonda M. Cooper-DeHoff, Hanna K. Flaten, Oghenero Evero, Tracey M. Ferrara, Richard A. Spritz and Andrew A. Monte
    Citation: Human Genomics 2016 10:11
  11. 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...

    Authors: Chelsea L. Loughner, Elspeth A. Bruford, Monica S. McAndrews, Emili E. Delp, Sudha Swamynathan and Shivalingappa K. Swamynathan
    Citation: Human Genomics 2016 10:10
  12. 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 ...

    Authors: 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
    Citation: Human Genomics 2016 10:9
  13. 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. ...

    Authors: 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
    Citation: Human Genomics 2016 10:8
  14. The Editors of Human Genomics would like to thank all our reviewers who have contributed to the journal in volume 9 (2015).

    Authors: Vasilis Vasiliou
    Citation: Human Genomics 2016 10:7
  15. 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...

    Authors: Kristian A Gray, Ruth L Seal, Susan Tweedie, Mathew W Wright and Elspeth A Bruford
    Citation: Human Genomics 2016 10:6
  16. Authors: Yichuan Liu, Yun Li, Michael E. March, Kenny Nguyen, Kexiang Xu, Fengxiang Wang, Yiran Guo, Brendan Keating, Joseph Glessner, Jiankang Li, Theodore J. Ganley, Jianguo Zhang, Matthew A. Deardorff, Xun Xu and Hakon Hakonarson
    Citation: Human Genomics 2016 10:5

    The original article was published in Human Genomics 2015 9:31

  17. 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...

    Authors: Sara E. Patterson, Rangjiao Liu, Cara M. Statz, Daniel Durkin, Anuradha Lakshminarayana and Susan M. Mockus
    Citation: Human Genomics 2016 10:4
  18. Migraine is the most common neurological disorder, affecting approximately 12 % of the adult population worldwide, caused by both environmental and genetic factors. Three causative genes have been identified i...

    Authors: Izabela Domitrz, Michalina Kosiorek, Cezary Żekanowski and Anna Kamińska
    Citation: Human Genomics 2016 10:3
  19. Proximal tubular dysfunction (PTD) is associated with a decreased long-term graft survival in renal transplant patients and can be detected by the elevation of urinary tubular proteins. This study investigated...

    Authors: Hátylas Azevedo, Paulo Guilherme Renesto, Rogério Chinen, Erika Naka, Ana Cristina Carvalho de Matos, Marcos Antônio Cenedeze, Carlos Alberto Moreira-Filho, Niels Olsen Saraiva Câmara and Alvaro Pacheco-Silva
    Citation: Human Genomics 2016 10:2
  20. Chronic obstructive pulmonary disease (COPD) is characterized by an irreversible airflow limitation in response to inhalation of noxious stimuli, such as cigarette smoke. However, only 15–20 % smokers manifest...

    Authors: Shannon Bruse, Michael Moreau, Yana Bromberg, Jun-Ho Jang, Nan Wang, Hongseok Ha, Maria Picchi, Yong Lin, Raymond J. Langley, Clifford Qualls, Julia Klesney-Tait, Joseph Zabner, Shuguang Leng, Jenny Mao, Steven A. Belinsky, Jinchuan Xing…
    Citation: Human Genomics 2016 10:1

    The Correction to this article has been published in Human Genomics 2021 15:74

  21. The human APOBEC protein family plays critical but distinct roles in host defense. Recent studies revealed that APOBECs mediate C-to-T mutagenesis in multiple cancers, including breast cancer. It is still uncl...

    Authors: Yanfeng Zhang, Ryan Delahanty, Xingyi Guo, Wei Zheng and Jirong Long
    Citation: Human Genomics 2015 9:34
  22. Next-generation sequencing (NGS) has revolutionized genetic research and offers enormous potential for clinical application. Sequencing the exome has the advantage of casting the net wide for all known coding ...

    Authors: Eileen C. P. Lim, Maggie Brett, Angeline H. M. Lai, Siew-Peng Lee, Ee-Shien Tan, Saumya S. Jamuar, Ivy S. L. Ng and Ene-Choo Tan
    Citation: Human Genomics 2015 9:33
  23. Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90 years, only in...

    Authors: Hongbin Dong, Daniel W. Nebert, Elspeth A. Bruford, David C. Thompson, Hans Joenje and Vasilis Vasiliou
    Citation: Human Genomics 2015 9:32
  24. Absence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associate...

    Authors: Yichuan Liu, Yun Li, Michael E. March, Kenny Nguyen, Kexiang Xu, Fengxiang Wang, Yiran Guo, Brendan Keating, Joseph Glessner, Jiankang Li, Theodore J. Ganley, Jianguo Zhang, Matthew A. Deardorff, Xun Xu and Hakon Hakonarson
    Citation: Human Genomics 2015 9:31

    The Erratum to this article has been published in Human Genomics 2016 10:5

  25. Medication overuse headache (MOH) is a common and debilitating disorder characterized by generation, perpetuation, and persistence of intense chronic migraine, caused by overuse of analgesics, triptans, or oth...

    Authors: Claudia Pisanu, Stefano Caproni, Donatella Congiu, Letizia M. Cupini, Alessio Squassina, George P. Patrinos, Ilenia Corbelli, Paolo Calabresi, Maria Del Zompo and Paola Sarchielli
    Citation: Human Genomics 2015 9:30
  26. The CpG island methylator phenotype (CIMP) was first characterized in colorectal cancer but since has been extensively studied in several other tumor types such as breast, bladder, lung, and gastric. CIMP is o...

    Authors: Matahi Moarii, Fabien Reyal and Jean-Philippe Vert
    Citation: Human Genomics 2015 9:26
  27. Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2). Recent studies have shown that t...

    Authors: Mary B. Mayes, Taniesha Morgan, Jincy Winston, Daniel S. Buxton, Mihir Anant Kamat, Debbie Smith, Maggie Williams, Rebecca L. Martin, Dirk A. Kleinjan, David N. Cooper, Meena Upadhyaya and Nadia Chuzhanova
    Citation: Human Genomics 2015 9:25
  28. “CCN” is an acronym referring to the first letter of each of the first three members of this original group of mammalian functionally and phylogenetically distinct extracellular matrix (ECM) proteins [i.e., cy...

    Authors: Izabela Krupska, Elspeth A. Bruford and Brahim Chaqour
    Citation: Human Genomics 2015 9:24
  29. Esophageal adenocarcinoma (EA) is among the leading causes of cancer mortality, especially in developed countries. A high level of somatic copy number alterations (CNAs) accumulates over the decades in the pro...

    Authors: Xiaoyu Wang, Xiaohong Li, Yichen Cheng, Xin Sun, Xibin Sun, Steve Self, Charles Kooperberg and James Y. Dai
    Citation: Human Genomics 2015 9:22
  30. Known examples of ancient identical-by-descent genetic variants being shared between evolutionarily related species, known as trans-species polymorphisms (TSPs), result from counterbalancing selective forces a...

    Authors: Luisa Azevedo, Catarina Serrano, Antonio Amorim and David N. Cooper
    Citation: Human Genomics 2015 9:21
  31. Many genetic variants have been identified in the human genome. The functional effects of a single variant have been intensively studied. However, the joint effects of multiple variants in the same genes have ...

    Authors: Mingming Liu, Layne T. Watson and Liqing Zhang
    Citation: Human Genomics 2015 9:18
  32. Genome-wide association studies of complex physiological traits and diseases consistently found that associated genetic factors, such as allelic polymorphisms or DNA mutations, only explained a minority of the...

    Authors: Marco Trerotola, Valeria Relli, Pasquale Simeone and Saverio Alberti
    Citation: Human Genomics 2015 9:17
  33. Fine scale population structure of Malays - the major population in Malaysia, has not been well studied. This may have important implications for both evolutionary and medical studies. Here, we investigated th...

    Authors: Boon-Peng Hoh, Lian Deng, Mat Jusoh Julia-Ashazila, Zakaria Zuraihan, Ma’amor Nur-Hasnah, Ab Rajab Nur‐Shafawati, Wan Isa Hatin, Ismail Endom, Bin Alwi Zilfalil, Yusoff Khalid and Shuhua Xu
    Citation: Human Genomics 2015 9:16
  34. Conditions associated with sudden cardiac arrest/death (SCA/D) in youth often have a genetic etiology. While SCA/D is uncommon, a pro-active family screening approach may identify these inherited structural an...

    Authors: Mindy H. Li, Jenica L. Abrudan, Matthew C. Dulik, Ariella Sasson, Joshua Brunton, Vijayakumar Jayaraman, Noreen Dugan, Danielle Haley, Ramakrishnan Rajagopalan, Sawona Biswas, Mahdi Sarmady, Elizabeth T. DeChene, Matthew A. Deardorff, Alisha Wilkens, Sarah E. Noon, Maria I. Scarano…
    Citation: Human Genomics 2015 9:15
  35. SIRT1 is likely to play a role in the extension in healthspan induced by dietary restriction. Actions of SIRT1 are pleiotropic, and effects on healthspan may include effects on DNA methylation. Polycomb group ...

    Authors: Luisa A Wakeling, Laura J Ions, Suzanne M Escolme, Simon J Cockell, Tianhong Su, Madhurima Dey, Emily V Hampton, Gail Jenkins, Linda J Wainwright, Jill A McKay and Dianne Ford
    Citation: Human Genomics 2015 9:14
  36. Genetic Renal Disease (GRD) presents to mainstream clinicians as a mixture of kidney-specific as well as multi-organ entities, many with highly variable phenotype-genotype relationships. The rapid increase in ...

    Authors: Andrew Mallett, Christopher Corney, Hugh McCarthy, Stephen I. Alexander and Helen Healy
    Citation: Human Genomics 2015 9:13
  37. Cancer, like many common disorders, has a complex etiology, often with a strong genetic component and with multiple environmental factors contributing to susceptibility. A considerable number of genomic varian...

    Authors: Ioannis Karageorgos, Clint Mizzi, Efstathia Giannopoulou, Cristiana Pavlidis, Brock A. Peters, Zoi Zagoriti, Peter D. Stenson, Konstantinos Mitropoulos, Joseph Borg, Haralabos P. Kalofonos, Radoje Drmanac, Andrew Stubbs, Peter van der Spek, David N. Cooper, Theodora Katsila and George P. Patrinos
    Citation: Human Genomics 2015 9:12
  38. In recent years, the translation of genomic discoveries into mainstream medical practice and public health has gained momentum, facilitated by the advent of new technologies. However, there are often major dis...

    Authors: Konstantinos Mitropoulos, Hayat Al Jaibeji, Diego A. Forero, Paul Laissue, Ambroise Wonkam, Catalina Lopez-Correa, Zahurin Mohamed, Wasun Chantratita, Ming Ta Michael Lee, Adrian Llerena, Angela Brand, Bassam R. Ali and George P. Patrinos
    Citation: Human Genomics 2015 9:11
  39. The translational pipeline for genomic medicine has been well defined. However, as with any rapidly changing technology, innovations are difficult to predict leading to the potential to disrupt anticipated tra...

    Authors: Marc S. Williams
    Citation: Human Genomics 2015 9:9
  40. The current practice of using only a few strongly associated genetic markers in regression models results in generally low power in prediction or accounting for heritability of complex human traits.

    Authors: Madhuchhanda Bhattacharjee, Mangalathu S. Rajeevan and Mikko J. Sillanpää
    Citation: Human Genomics 2015 9:8

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