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  1. Content type: Research

    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

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

  2. Content type: Primary research

    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

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  3. Content type: Primary research

    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

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  4. Content type: Opinion article

    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

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  5. Content type: Primary research

    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

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  6. Content type: Meeting Abstracts

    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

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

  7. Content type: Primary research

    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

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  8. Content type: Primary research

    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

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  9. Content type: Gene family update

    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

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  10. Content type: Letter to the Editor

    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

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  11. Content type: Primary research

    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

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  12. Content type: Reviewer acknowledgement

    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

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  13. Content type: Review

    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

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  14. Content type: Erratum

    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

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

  15. Content type: Primary research

    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

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  16. Content type: Primary research

    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

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  17. Content type: Primary research

    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

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  18. Content type: Primary research

    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 Klensney-Tait, Joseph Zabner, Shuguang Leng, Jenny Mao, Steven A. Belinsky, Jinchuan Xing…

    Citation: Human Genomics 2016 10:1

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  19. Content type: Primary research

    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

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  20. Content type: Primary research

    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

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  21. Content type: Gene family update

    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

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  22. Content type: Primary research

    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

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

  23. Content type: Primary research

    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

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  24. Content type: PRIMARY RESEARCH

    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

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  25. Content type: Primary research

    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

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  26. Content type: Review

    “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

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  27. Content type: Primary research

    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

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  28. Content type: Review

    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

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  29. Content type: PRIMARY RESEARCH

    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

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  30. Content type: Review

    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

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  31. Content type: Primary research

    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

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  32. Content type: Primary research

    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

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  33. Content type: Primary research

    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

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  34. Content type: Opinion article

    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

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  35. Content type: Primary research

    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

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  36. Content type: Opinion article

    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

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  37. Content type: Opinion article

    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

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  38. Content type: Primary research

    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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  39. Content type: Primary research

    Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI of...

    Authors: Katre Maasalu, Tiit Nikopensius, Sulev Kõks, Margit Nõukas, Mart Kals, Ele Prans, Lidiia Zhytnik, Andres Metspalu and Aare Märtson

    Citation: Human Genomics 2015 9:6

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