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  1. Unfortunately, the original article [1] contained an error. The additional files were included incorrectly. The correct additional files 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13 and 14 are published in this c...

    Authors: Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, Jessica JY Lee, Clara van Karnebeek and Wyeth W Wasserman
    Citation: BMC Medical Genomics 2017 10:69
    Content type: Correction Published on:

    The original article was published in BMC Medical Genomics 2014 7:64

  2. Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours. It is a complex genetic condition and, in case of early onset (EO...

    Authors: Edna Grünblatt, Beatrice Oneda, Arif B. Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch and Susanne Walitza
    Citation: BMC Medical Genomics 2017 10:68
    Content type: Research article Published on:

  3. MiRNAs are frequently abnormally expressed in the progression of human osteosarcoma. Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) is one of the tumor suppressors in various types of human c...

    Authors: Biao Zhong, Shang Guo, Wei Zhang, Chi Zhang, Yukai Wang and Changqing Zhang
    Citation: BMC Medical Genomics 2017 10:64
    Content type: Research article Published on:

  4. Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS...

    Authors: Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu and Yongguo Yu
    Citation: BMC Medical Genomics 2017 10:62
    Content type: Research article Published on:

  5. Significant clinical and research applications are driving large scale adoption of individualized tumor sequencing in cancer in order to identify tumors-specific mutations. When a matched germline sample is av...

    Authors: Rebecca F. Halperin, John D. Carpten, Zarko Manojlovic, Jessica Aldrich, Jonathan Keats, Sara Byron, Winnie S. Liang, Megan Russell, Daniel Enriquez, Ana Claasen, Irene Cherni, Baffour Awuah, Joseph Oppong, Max S. Wicha, Lisa A. Newman, Evelyn Jaigge…
    Citation: BMC Medical Genomics 2017 10:61
    Content type: Research article Published on:

  6. Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers. However, it remains a difficulty t...

    Authors: Shuo Zhang, Caixia Lei, Junping Wu, Jing Zhou, Haiyan Sun, Jing Fu, Yijuan Sun, Xiaoxi Sun, Daru Lu and Yueping Zhang
    Citation: BMC Medical Genomics 2017 10:60
    Content type: Research article Published on:

  8. Cigarette smoking is the leading modifiable risk factor for disease and death worldwide. Previous studies quantifying gene-level expression have documented the effect of smoking on mRNA levels. Using RNA seque...

    Authors: Margaret M. Parker, Robert P. Chase, Andrew Lamb, Alejandro Reyes, Aabida Saferali, Jeong H. Yun, Blanca E. Himes, Edwin K. Silverman, Craig P. Hersh and Peter J. Castaldi
    Citation: BMC Medical Genomics 2017 10:58
    Content type: Research article Published on:

    The Correction to this article has been published in BMC Medical Genomics 2019 12:166

  9. With 15,949 markers, the low-density Infinium QC Array-24 BeadChip enables linkage analysis, HLA haplotyping, fingerprinting, ethnicity determination, mitochondrial genome variations, blood groups and pharmaco...

    Authors: Petr Ponomarenko, Alex Ryutov, Dennis T. Maglinte, Ancha Baranova, Tatiana V. Tatarinova and Xiaowu Gai
    Citation: BMC Medical Genomics 2017 10:57
    Content type: Research article Published on:

  11. PD is a progressive neurodegenerative disorder commonly treated by levodopa. The findings from genetic studies on adverse effects (ADRs) and levodopa efficacy are mostly inconclusive. Here, we aim to identify ...

    Authors: Debleena Guin, Manish Kumar Mishra, Puneet Talwar, Chitra Rawat, Suman S. Kushwaha, Shrikant Kukreti and Ritushree Kukreti
    Citation: BMC Medical Genomics 2017 10:56
    Content type: Research article Published on:

  12. Inhibition of nonsense-mediated mRNA decay (NMD) in tumor cells can suppress tumor growth through expressing new antigens whose mRNAs otherwise are degraded by NMD. Thus NMD inhibition is a promising approach ...

    Authors: Meng Wang, Peiwei Zhang, Yufei Zhu, Xiangyin Kong, Zhenguo Zhang and Landian Hu
    Citation: BMC Medical Genomics 2017 10:55
    Content type: Research article Published on:

  13. Formalin fixed paraffin embedded (FFPE) tumor samples are a major source of DNA from patients in cancer research. However, FFPE is a challenging material to work with due to macromolecular fragmentation and nu...

    Authors: Jackie L. Ludgate, James Wright, Peter A. Stockwell, Ian M. Morison, Michael R. Eccles and Aniruddha Chatterjee
    Citation: BMC Medical Genomics 2017 10:54
    Content type: Technical advance Published on:

  14. Gene-fusion or chimeric transcripts have been implicated in the onset and progression of a variety of cancers. Massively parallel RNA sequencing (RNA-Seq) of the cellular transcriptome is a promising approach ...

    Authors: Vinay K. Mittal and John F. McDonald
    Citation: BMC Medical Genomics 2017 10:53
    Content type: Research article Published on:

  15. The implantation of mechanical circulatory support devices in heart failure patients is associated with a systemic inflammatory response, potentially leading to death from multiple organ dysfunction syndrome. ...

    Authors: Nicholas Wisniewski, Galyna Bondar, Christoph Rau, Jay Chittoor, Eleanor Chang, Azadeh Esmaeili, Martin Cadeiras and Mario Deng
    Citation: BMC Medical Genomics 2017 10:52
    Content type: Research article Published on:

  16. Preeclampsia is a multifactorial disease with unknown pathogenesis. Even when recent studies explored this disease using several bioinformatics tools, the main objective was not directed to pathogenesis. Addit...

    Authors: Eduardo Tejera, Maykel Cruz-Monteagudo, Germán Burgos, María-Eugenia Sánchez, Aminael Sánchez-Rodríguez, Yunierkis Pérez-Castillo, Fernanda Borges, Maria Natália Dias Soeiro Cordeiro, César Paz-y-Miño and Irene Rebelo
    Citation: BMC Medical Genomics 2017 10:50
    Content type: Research article Published on:

  17. Advances in DNA sequencing technologies have prompted a wide range of genomic applications to improve healthcare and facilitate biomedical research. However, privacy and security concerns have emerged as a cha...

    Authors: Feng Chen, Chenghong Wang, Wenrui Dai, Xiaoqian Jiang, Noman Mohammed, Md Momin Al Aziz, Md Nazmus Sadat, Cenk Sahinalp, Kristin Lauter and Shuang Wang
    Citation: BMC Medical Genomics 2017 10(Suppl 2):48
    Content type: Research Published on:

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

  18. Cloud computing is becoming the preferred solution for efficiently dealing with the increasing amount of genomic data. Yet, outsourcing storage and processing sensitive information, such as genomic data, comes...

    Authors: João Sá Sousa, Cédric Lefebvre, Zhicong Huang, Jean Louis Raisaro, Carlos Aguilar-Melchor, Marc-Olivier Killijian and Jean-Pierre Hubaux
    Citation: BMC Medical Genomics 2017 10(Suppl 2):46
    Content type: Research Published on:

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

  19. One of the tasks in the iDASH Secure Genome Analysis Competition in 2016 was to demonstrate the feasibility of privacy-preserving queries on homomorphically encrypted genomic data. More precisely, given a list...

    Authors: Gizem S. Çetin, Hao Chen, Kim Laine, Kristin Lauter, Peter Rindal and Yuhou Xia
    Citation: BMC Medical Genomics 2017 10(Suppl 2):45
    Content type: Research Published on:

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

  20. Whole genome sequencing has become fast, accurate, and cheap, paving the way towards the large-scale collection and processing of human genome data. Unfortunately, this dawning genome era does not only promise...

    Authors: Jan Henrik Ziegeldorf, Jan Pennekamp, David Hellmanns, Felix Schwinger, Ike Kunze, Martin Henze, Jens Hiller, Roman Matzutt and Klaus Wehrle
    Citation: BMC Medical Genomics 2017 10(Suppl 2):44
    Content type: Research Published on:

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

  21. With the enormous need for federated eco-system for holding global genomic and clinical data, Global Alliance for Genomic and Health (GA4GH) has created an international website called beacon service which all...

    Authors: Md Momin Al Aziz, Reza Ghasemi, Md Waliullah and Noman Mohammed
    Citation: BMC Medical Genomics 2017 10(Suppl 2):43
    Content type: Research Published on:

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

  22. As genome sequencing technology develops rapidly, there has lately been an increasing need to keep genomic data secure even when stored in the cloud and still used for research. We are interested in designing ...

    Authors: Miran Kim, Yongsoo Song and Jung Hee Cheon
    Citation: BMC Medical Genomics 2017 10(Suppl 2):42
    Content type: Research Published on:

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

  23. Edit distance is a well established metric to quantify how dissimilar two strings are by counting the minimum number of operations required to transform one string into the other. It is utilized in the domain ...

    Authors: Md Momin Al Aziz, Dima Alhadidi and Noman Mohammed
    Citation: BMC Medical Genomics 2017 10(Suppl 2):41
    Content type: Research Published on:

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

  24. Genomic data is increasingly collected by a wide array of organizations. As such, there is a growing demand to make summary information about such collections available more widely. However, over the past deca...

    Authors: Zhiyu Wan, Yevgeniy Vorobeychik, Murat Kantarcioglu and Bradley Malin
    Citation: BMC Medical Genomics 2017 10(Suppl 2):39
    Content type: Research Published on:

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

  25. Intratumor heterogeneity (ITH) poses an urgent challenge for cancer precision medicine because it can cause drug resistance against cancer target therapy and immunotherapy. The search for trunk mutations that ...

    Authors: Zhan Zhou, Shanshan Wu, Jun Lai, Yuan Shi, Chixiao Qiu, Zhe Chen, Yufeng Wang, Xun Gu, Jie Zhou and Shuqing Chen
    Citation: BMC Medical Genomics 2017 10:49
    Content type: Case report Published on:

  27. Lung cancer is a leading cause of cancer-related death worldwide and is the most commonly diagnosed cancer. Like other cancers, it is a complex and highly heterogeneous disease involving multiple signaling pat...

    Authors: Salem A. El-aarag, Amal Mahmoud, Medhat H. Hashem, Hatem Abd Elkader, Alaa E. Hemeida and Mahmoud ElHefnawi
    Citation: BMC Medical Genomics 2017 10:40
    Content type: Research article Published on:

  28. Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral ...

    Authors: Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M. Isaacs and Vincent Plagnol
    Citation: BMC Medical Genomics 2017 10:38
    Content type: Research article Published on:

  29. An increasing number of precision oncology programmes are being launched world-wide. To support this development, we present the Cancer Variant Explorer (CVE), an R package with an interactive Shiny web browse...

    Authors: Andreas Mock, Suzanne Murphy, James Morris, Francesco Marass, Nitzan Rosenfeld and Charlie Massie
    Citation: BMC Medical Genomics 2017 10:37
    Content type: Software Published on:

  30. Many genetic diseases are caused by mutations in non-coding regions of the genome. These mutations are frequently found in enhancer sequences, causing disruption to the regulatory program of the cell. Enhancer...

    Authors: Julia Herman-Izycka, Michal Wlasnowolski and Bartek Wilczynski
    Citation: BMC Medical Genomics 2017 10(Suppl 1):34
    Content type: Research Published on:

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

  32. Aspirin Exacerbated Respiratory Disease (AERD) is a chronic medical condition that encompasses asthma, nasal polyposis, and hypersensitivity to aspirin and other non-steroidal anti-inflammatory drugs. Several ...

    Authors: Sehee Wang, Hyun-hwan Jeong, Dokyoon Kim, Kyubum Wee, Hae-Sim Park, Seung-Hyun Kim and Kyung-Ah Sohn
    Citation: BMC Medical Genomics 2017 10(Suppl 1):31
    Content type: Research Published on:

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

  33. One of the fundamental challenges in cancer is to detect the regulators of gene expression changes during cancer progression. Through transcriptional silencing of critical cancer-related genes, epigenetic chan...

    Authors: Manu Shivakumar, Younghee Lee, Lisa Bang, Tullika Garg, Kyung-Ah Sohn and Dokyoon Kim
    Citation: BMC Medical Genomics 2017 10(Suppl 1):30
    Content type: Research Published on:

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

  34. The APOE ε4 allele is the most significant common genetic risk factor for late-onset Alzheimer’s disease (LOAD). The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. Howev...

    Authors: Kwangsik Nho, Sungeun Kim, Emrin Horgusluoglu, Shannon L. Risacher, Li Shen, Dokyoon Kim, Seunggeun Lee, Tatiana Foroud, Leslie M. Shaw, John Q. Trojanowski, Paul S. Aisen, Ronald C. Petersen, Clifford R. Jack Jr., Michael W. Weiner, Robert C. Green, Arthur W. Toga…
    Citation: BMC Medical Genomics 2017 10(Suppl 1):29
    Content type: Research Published on:

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

  35. Breast cancer is a complex disease in which different genomic patterns exists depending on different subtypes. Recent researches present that multiple subtypes of breast cancer occur at different rates, and pl...

    Authors: Garam Lee, Lisa Bang, So Yeon Kim, Dokyoon Kim and Kyung-Ah Sohn
    Citation: BMC Medical Genomics 2017 10(Suppl 1):28
    Content type: Research Published on:

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

  36. Transcriptome analytic tools are commonly used across patient cohorts to develop drugs and predict clinical outcomes. However, as precision medicine pursues more accurate and individualized treatment decisions...

    Authors: Qike Li, A. Grant Schissler, Vincent Gardeux, Ikbel Achour, Colleen Kenost, Joanne Berghout, Haiquan Li, Hao Helen Zhang and Yves A. Lussier
    Citation: BMC Medical Genomics 2017 10(Suppl 1):27
    Content type: Research Published on:

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

  37. Complex diseases involve many genes, and these genes are often associated with several different illnesses. Disease similarity measurement can be based on shared genotype or phenotype. Quantifying relationship...

    Authors: Matthew B. Carson, Cong Liu, Yao Lu, Caiyan Jia and Hui Lu
    Citation: BMC Medical Genomics 2017 10(Suppl 1):26
    Content type: Research Published on:

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

  38. Authors: Laura De-Ugarte, Guy Yoskovitz, Susana Balcells, Robert Güerri-Fernández, Santos Martinez-Diaz, Leonardo Mellibovsky, Roser Urreizti, Xavier Nogués, Daniel Grinberg, Natalia García-Giralt and Adolfo Díez-Pérez
    Citation: BMC Medical Genomics 2017 10:36
    Content type: Erratum Published on:

    The original article was published in BMC Medical Genomics 2015 8:75

  39. To realize potential public health benefits from genetic and genomic innovations, understanding how best to implement the innovations into clinical care is important. The objective of this study was to synthes...

    Authors: Nina R. Sperber, Janet S. Carpenter, Larisa H. Cavallari, Laura J. Damschroder, Rhonda M. Cooper-DeHoff, Joshua C. Denny, Geoffrey S. Ginsburg, Yue Guan, Carol R. Horowitz, Kenneth D. Levy, Mia A. Levy, Ebony B. Madden, Michael E. Matheny, Toni I. Pollin, Victoria M. Pratt, Marc Rosenman…
    Citation: BMC Medical Genomics 2017 10:35
    Content type: Research article Published on:

  40. The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mu...

    Authors: Donavan T. Cheng, Meera Prasad, Yvonne Chekaluk, Ryma Benayed, Justyna Sadowska, Ahmet Zehir, Aijazuddin Syed, Yan Elsa Wang, Joshua Somar, Yirong Li, Zarina Yelskaya, Donna Wong, Mark E. Robson, Kenneth Offit, Michael F. Berger, Khedoudja Nafa…
    Citation: BMC Medical Genomics 2017 10:33
    Content type: Technical advance Published on:

  41. Both ambulatory atrial fibrillation (AF) and post-operative AF (poAF) are associated with substantial morbidity and mortality. Analyzing the tissue-specific gene expression in the left atrium (LA) can identify...

    Authors: Martin I Sigurdsson, Louis Saddic, Mahyar Heydarpour, Tzuu-Wang Chang, Prem Shekar, Sary Aranki, Gregory S Couper, Stanton K. Shernan, Jochen D. Muehlschlegel and Simon C. Body
    Citation: BMC Medical Genomics 2017 10:25
    Content type: Research article Published on:

  42. The impacts of direct-to-consumer personal genomic testing (PGT) on health behaviors such as diet and exercise are poorly understood. Our investigation aimed to evaluate diet and exercise changes following PGT...

    Authors: Daiva Elena Nielsen, Deanna Alexis Carere, Catharine Wang, J. Scott Roberts and Robert C. Green
    Citation: BMC Medical Genomics 2017 10:24
    Content type: Research article Published on:

  43. Colon cancer, one of the most common causes of cancer-related deaths, arises from adenomatous polyps. In these years, circulating microRNAs (miRNAs) have attracted increasing attention as novel biomarkers for ...

    Authors: Yajie Zhang, Min Li, Yijiang Ding, Zhimin Fan, Jinchun Zhang, Hongying Zhang, Bin Jiang and Yong Zhu
    Citation: BMC Medical Genomics 2017 10:23
    Content type: Research article Published on:

  44. Biliary Atresia (BA) is rare and genetically complex, and the pathogenesis is elusive. The disease course is variable and can represent heterogeneity, which hinders effective disease management. Deciphering th...

    Authors: Guo Cheng, Patrick Ho-Yu Chung, Edwin Kin-Wai Chan, Man-Ting So, Pak-Chung Sham, Stacey S. Cherny, Paul Kwong-Hang Tam and Maria-Mercè Garcia-Barceló
    Citation: BMC Medical Genomics 2017 10:22
    Content type: Research article Published on:

  45. Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, which codes for the dystrophin protein. While progress has been made in defining the molecular basis and pathogenesis of DMD, major gaps r...

    Authors: Larry W. Markham, Candice L. Brinkmeyer-Langford, Jonathan H. Soslow, Manisha Gupte, Douglas B. Sawyer, Joe N. Kornegay and Cristi L. Galindo
    Citation: BMC Medical Genomics 2017 10:21
    Content type: Research article Published on:

  46. Patient stratification to identify subtypes with different disease manifestations, severity, and expected survival time is a critical task in cancer diagnosis and treatment. While stratification approaches usi...

    Authors: Kiley Graim, Tiffany Ting Liu, Achal S. Achrol, Evan O. Paull, Yulia Newton, Steven D. Chang, Griffith R. Harsh IV, Sergio P. Cordero, Daniel L. Rubin and Joshua M. Stuart
    Citation: BMC Medical Genomics 2017 10:20
    Content type: Research article Published on:

  47. Basal-like constitutes an important molecular subtype of breast cancer characterised by an aggressive behaviour and a limited therapy response. The outcome of patients within this subtype is, however, divergen...

    Authors: Heloisa H. Milioli, Inna Tishchenko, Carlos Riveros, Regina Berretta and Pablo Moscato
    Citation: BMC Medical Genomics 2017 10:19
    Content type: Research Article Published on:

  49. The importance of accurate and affordable mutation calling in fixed pathology samples is becoming increasingly important as we move into the era of personalised medicine. The Affymetrix OncoScan® Array platfor...

    Authors: Henry M. Wood, Joseph M. Foster, Morag Taylor, Emma Tinkler-Hundal, Fiona S. Togneri, Paula Wojtowicz, Assa Oumie, Karen G. Spink, Fiona Brew and Philip Quirke
    Citation: BMC Medical Genomics 2017 10:17
    Content type: Research article Published on:

  50. The distinct types of hematological malignancies have different biological mechanisms and prognoses. For instance, myelodysplastic syndrome (MDS) is generally indolent and low risk; however, it may transform i...

    Authors: Amir Foroushani, Rupesh Agrahari, Roderick Docking, Linda Chang, Gerben Duns, Monika Hudoba, Aly Karsan and Habil Zare
    Citation: BMC Medical Genomics 2017 10:16
    Content type: Research Article Published on:
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