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  1. Glucocorticoids act on the glucocorticoid receptor (GR; NR3C1) to resolve inflammation and, as inhaled corticosteroids (ICS), are the cornerstone of treatment for asthma. However, reduced efficacy in severe di...

    Authors: Mahmoud M. Mostafa, Christopher F. Rider, Suharsh Shah, Suzanne L. Traves, Paul M. K. Gordon, Anna Miller-Larsson, Richard Leigh and Robert Newton

    Citation: BMC Medical Genomics 2019 12:29

    Content type: Research article

    Published on:

  2. Haplotype phasing is an important step in many bioinformatics workflows. In cancer genomics, it is suggested that reconstructing the clonal haplotypes of a tumor sample could facilitate a comprehensive underst...

    Authors: Yixuan Wang, Xuanping Zhang, Shuai Ding, Yu Geng, Jianye Liu, Zhongmeng Zhao, Rong Zhang, Xiao Xiao and Jiayin Wang

    Citation: BMC Medical Genomics 2019 12(Suppl 1):27

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  3. Cardiovascular disease, diabetes, and kidney disease are among the leading causes of death and disability worldwide. However, knowledge of genetic determinants of those diseases in African Americans remains li...

    Authors: Xueyan Zhao, Xin Geng, Vinodh Srinivasasainagendra, Ninad Chaudhary, Suzanne Judd, Virginia Wadley, Orlando M. Gutiérrez, Henry Wang, Ethan M. Lange, Leslie A. Lange, Daniel Woo, Frederick W. Unverzagt, Monika Safford, Mary Cushman, Nita Limdi, Rakale Quarells…

    Citation: BMC Medical Genomics 2019 12(Suppl 1):26

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  4. While changes in mRNA expression during tumorigenesis have been used widely as molecular biomarkers for the diagnosis of a number of cancers, the approach has limitations. For example, traditional methods do n...

    Authors: Fan Zhang, Linda Ding, Li Cui, Robert Barber and Bin Deng

    Citation: BMC Medical Genomics 2019 12(Suppl 1):25

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  5. Prognostic signatures are vital to precision medicine. However, development of somatic mutation prognostic signatures for cancers remains a challenge. In this study we developed a novel method for discovering ...

    Authors: Mark Menor, Yong Zhu, Yu Wang, Jicai Zhang, Bin Jiang and Youping Deng

    Citation: BMC Medical Genomics 2019 12(Suppl 1):24

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  6. While most pediatric sarcomas respond to front-line therapy, some bone sarcomas do not show radiographic response like soft-tissue sarcomas (rhabdomyosarccomas) but do show 90% necrosis. Though, new therapies ...

    Authors: Lijun Cheng, Pankita H. Pandya, Enze Liu, Pooja Chandra, Limei Wang, Mary E. Murray, Jacquelyn Carter, Michael Ferguson, Mohammad Reza Saadatzadeh, Khadijeh Bijangi-Visheshsaraei, Mark Marshall, Lang Li, Karen E. Pollok and Jamie L. Renbarger

    Citation: BMC Medical Genomics 2019 12(Suppl 1):23

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  7. Identifying cancer driver genes (CDG) is a crucial step in cancer genomic toward the advancement of precision medicine. However, driver gene discovery is a very challenging task because we are not only dealing...

    Authors: Alice Djotsa Nono, Ken Chen and Xiaoming Liu

    Citation: BMC Medical Genomics 2019 12(Suppl 1):22

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  8. The study of high-throughput genomic profiles from a pharmacogenomics viewpoint has provided unprecedented insights into the oncogenic features modulating drug response. A recent study screened for the respons...

    Authors: Yu-Chiao Chiu, Hung-I Harry Chen, Tinghe Zhang, Songyao Zhang, Aparna Gorthi, Li-Ju Wang, Yufei Huang and Yidong Chen

    Citation: BMC Medical Genomics 2019 12(Suppl 1):18

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

    The Correction to this article has been published in BMC Medical Genomics 2019 12:119

  9. Cleft lip (CL) is one of the most common congenital birth defects with complex etiology. While genome-wide association studies (GWAS) have made significant advances in our understanding of mutations and their ...

    Authors: Aimin Li, Guimin Qin, Akiko Suzuki, Mona Gajera, Junichi Iwata, Peilin Jia and Zhongming Zhao

    Citation: BMC Medical Genomics 2019 12(Suppl 1):16

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  10. Predicting cellular responses to drugs has been a major challenge for personalized drug therapy regimen. Recent pharmacogenomic studies measured the sensitivities of heterogeneous cell lines to numerous drugs,...

    Authors: Xuewei Wang, Zhifu Sun, Michael T. Zimmermann, Andrej Bugrim and Jean-Pierre Kocher

    Citation: BMC Medical Genomics 2019 12(Suppl 1):15

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  11. At least 90% of human genes are alternatively spliced. Alternative splicing has an important function regulating gene expression and miss-splicing can contribute to risk for human diseases, including Alzheimer...

    Authors: Seonggyun Han, Jason E. Miller, Seyoun Byun, Dokyoon Kim, Shannon L. Risacher, Andrew J. Saykin, Younghee Lee and Kwangsik Nho

    Citation: BMC Medical Genomics 2019 12(Suppl 1):13

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  12. Although synonymous single nucleotide variants (sSNVs) do not alter the protein sequences, they have been shown to play an important role in human disease. Distinguishing pathogenic sSNVs from neutral ones is ...

    Authors: Fang Shi, Yao Yao, Yannan Bin, Chun-Hou Zheng and Junfeng Xia

    Citation: BMC Medical Genomics 2019 12(Suppl 1):12

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 1

  13. Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic...

    Authors: Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang and Xiaowei Chen

    Citation: BMC Medical Genomics 2019 12:28

    Content type: Research article

    Published on:

  14. The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made...

    Authors: Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat, Mariam Rajab, Chebl Mourani, Adib Moukarzel, Simon Rassi, Bernard Gerbaka, Hicham Mansour…

    Citation: BMC Medical Genomics 2019 12:11

    Content type: Research article

    Published on:

  15. It has been found that chronic rhinosinusitis (CRS) increases the risk of developing nasopharyngeal carcinoma (NPC). CRS can be caused by gastro-oesophageal reflux (GOR) that may reach nasopharynx. The major c...

    Authors: Sang-Nee Tan and Sai-Peng Sim

    Citation: BMC Medical Genomics 2019 12:9

    Content type: Research article

    Published on:

  16. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy. Aberrant expressed genes contribute to the development and progression of T-ALL. However, the regulation underlying their ...

    Authors: Mengxuan Xia, Qiong Zhang, Mei Luo, Pan Li, Yingxue Wang, Qian Lei and An-Yuan Guo

    Citation: BMC Medical Genomics 2019 12:8

    Content type: Research article

    Published on:

  17. Exosomes are a subset of extracellular vesicles 30–200 nm in diameter secreted from cells, which contain functional mRNAs and microRNAs. Cerebrospinal fluid (CSF) is the primary source for liquid biopsy to exa...

    Authors: Kentaro Otake, Hidenori Kamiguchi and Yoshihiko Hirozane

    Citation: BMC Medical Genomics 2019 12:7

    Content type: Technical advance

    Published on:

  18. Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. D...

    Authors: Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus and Denise Horn

    Citation: BMC Medical Genomics 2019 12:6

    Content type: Case report

    Published on:

  19. Mutations of SHOX represent the most frequent monogenic cause of short stature and related syndromes. The genetic alterations include point mutations and deletions/duplications spanning both SHOX and its regulato...

    Authors: Alice Monzani, Deepak Babu, Simona Mellone, Giulia Genoni, Antonella Fanelli, Flavia Prodam, Simonetta Bellone and Mara Giordano

    Citation: BMC Medical Genomics 2019 12:5

    Content type: Case report

    Published on:

  20. We assessed the stability of BAFF, interferon, plasma cell and LDG neutrophil gene expression signatures over time, and whether changes in expression coincided with changes in SLE disease activity.

    Authors: Michelle Petri, Wei Fu, Ann Ranger, Norm Allaire, Patrick Cullen, Laurence S. Magder and Yuji Zhang

    Citation: BMC Medical Genomics 2019 12:4

    Content type: Research article

    Published on:

  21. In the absence of antiretroviral treatments (ARTs), a small group of individuals infected with HIV, including long-term non-progressors (LTNPs) who maintain high levels of CD4+ T cells for more than 7–10 years...

    Authors: Sun Young Lee, Yong Kwang Park, Cheol-Hee Yoon, Kisoon Kim and Kyung-Chang Kim

    Citation: BMC Medical Genomics 2019 12:3

    Content type: Research article

    Published on:

  22. The etiology and mechanism of spontaneous preterm birth (sPTB) are still unclear. Accumulating evidence has documented that various environmental exposure scenarios may cause maternal and fetal epigenetic chan...

    Authors: Xi-Meng Wang, Fu-Ying Tian, Li-Jun Fan, Chuan-Bo Xie, Zhong-Zheng Niu and Wei-Qing Chen

    Citation: BMC Medical Genomics 2019 12:1

    Content type: Research article

    Published on:

  23. Long noncoding RNAs (lncRNAs) are widely involved in the initiation and development of cancer. Although some computational methods have been proposed to identify cancer-related lncRNAs, there is still a demand...

    Authors: Xuan Zhang, Jun Wang, Jing Li, Wen Chen and Changning Liu

    Citation: BMC Medical Genomics 2018 11(Suppl 6):120

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 6

  24. Identification of cancer subtypes is of great importance to facilitate cancer diagnosis and therapy. A number of methods have been proposed to integrate multi-sources data to identify cancer subtypes in recent...

    Authors: Yang Guo, Yang Qi, Zhanhuai Li and Xuequn Shang

    Citation: BMC Medical Genomics 2018 11(Suppl 6):119

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 6

  25. Gene expression-based profiling has been used to identify biomarkers for different breast cancer subtypes. However, this technique has many limitations. IsomiRs are isoforms of miRNAs that have critical roles ...

    Authors: Chaowang Lan, Hui Peng, Eileen M. McGowan, Gyorgy Hutvagner and Jinyan Li

    Citation: BMC Medical Genomics 2018 11(Suppl 6):118

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 6

  26. Human cancers are complex ecosystems composed of cells with distinct molecular signatures. Such intratumoral heterogeneity poses a major challenge to cancer diagnosis and treatment. Recent advancements of sing...

    Authors: Yanglan Gan, Ning Li, Guobing Zou, Yongchang Xin and Jihong Guan

    Citation: BMC Medical Genomics 2018 11(Suppl 6):117

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 6

  27. Micro-RNAs (miRNAs) play a significant role in regulating gene expression under physiological and pathological conditions such as cancers. However, it remains a challenging problem to discover the target messe...

    Authors: Lujia Chen and Xinghua Lu

    Citation: BMC Medical Genomics 2018 11(Suppl 6):116

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 6

  28. Gene co-expression network (GCN) mining is a systematic approach to efficiently identify novel disease pathways, predict novel gene functions and search for potential disease biomarkers. However, few studies h...

    Authors: Shunian Xiang, Zhi Huang, Tianfu Wang, Zhi Han, Christina Y. Yu, Dong Ni, Kun Huang and Jie Zhang

    Citation: BMC Medical Genomics 2018 11(Suppl 6):115

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 6

  29. Recent studies demonstrated that long non-coding RNAs (lncRNAs) could be intricately implicated in cancer-related molecular networks, and related to cancer occurrence, development and prognosis. However, clini...

    Authors: Jun Wang, Xuan Zhang, Wen Chen, Jing Li and Changning Liu

    Citation: BMC Medical Genomics 2018 11(Suppl 6):114

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 6

  30. Current knowledge and data on miRNA-lncRNA interactions is still limited and little effort has been made to predict target lncRNAs of miRNAs. Accumulating evidences suggest that the interaction patterns betwee...

    Authors: Zhi-An Huang, Yu-An Huang, Zhu-Hong You, Zexuan Zhu and Yiwen Sun

    Citation: BMC Medical Genomics 2018 11(Suppl 6):113

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 6

  31. Forty-two percent of patients experience disease comorbidity, contributing substantially to mortality rates and increased healthcare costs. Yet, the possibility of underlying shared mechanisms for diseases rem...

    Authors: Haiquan Li, Jungwei Fan, Francesca Vitali, Joanne Berghout, Dillon Aberasturi, Jianrong Li, Liam Wilson, Wesley Chiu, Minsu Pumarejo, Jiali Han, Colleen Kenost, Pradeep C. Koripella, Nima Pouladi, Dean Billheimer, Edward J. Bedrick and Yves A. Lussier

    Citation: BMC Medical Genomics 2018 11(Suppl 6):112

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 6

  32. There is a clear need for assays that can predict the risk of metastatic prostate cancer following curative procedures. Importantly these assays must be analytically robust in order to provide quality data for...

    Authors: Paul Wallace Medlow, Christopher James Steele, Andrena Marie McCavigan, Wesley Reardon, Christopher Michael Brown, Shauna May Lambe, Felipe Augusto Andre Ishiy, Steven Michael Walker, Gemma Elizabeth Logan, Olaide Yaqeen Raji, Viktor Berge, Betina Katz, Elaine Williamson Kay, Katherine Sheehan, Ronald William Watson, Denis Paul Harkin…

    Citation: BMC Medical Genomics 2018 11:125

    Content type: Research article

    Published on:

  33. Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mech...

    Authors: Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda and Guiomar Perez de Nanclares

    Citation: BMC Medical Genomics 2018 11:124

    Content type: Case report

    Published on:

  34. The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing. Since short read m...

    Authors: Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen and Joris R. Vermeesch

    Citation: BMC Medical Genomics 2018 11:123

    Content type: Research article

    Published on:

  35. Chromosome translocations are a hallmark of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Additional genomic aberrations are also crucial in both BCP-ALL leukemogenesis and treatment management. Her...

    Authors: Thayana Conceição Barbosa, Bruno Almeida Lopes, Caroline Barbieri Blunck, Marcela Braga Mansur, Adriana Vanessa Santini Deyl, Mariana Emerenciano and Maria S. Pombo-de-Oliveira

    Citation: BMC Medical Genomics 2018 11:122

    Content type: Case report

    Published on:

  36. Biliary atresia (BA), a fibrosing disorder of the developing biliary tract leading to liver failure in infancy, has an elevated incidence in indigenous New Zealand (NZ) Māori. We investigated a high rate of BA...

    Authors: Sophia R. Cameron-Christie, Justin Wilde, Andrew Gray, Rick Tankard, Melanie Bahlo, David Markie, Helen M. Evans and Stephen P. Robertson

    Citation: BMC Medical Genomics 2018 11:121

    Content type: Research article

    Published on:

  37. Non-alcoholic fatty liver disease (NAFLD) is a major health burden in need for new medication. To identify potential drug targets a genomic study was performed in lipid-laden primary human hepatocyte (PHH) and...

    Authors: Stephanie Breher-Esch, Nishika Sahini, Anna Trincone, Christin Wallstab and Jürgen Borlak

    Citation: BMC Medical Genomics 2018 11:111

    Content type: Research article

    Published on:

  38. Large-scale “omics” datasets have not been leveraged and integrated with functional analyses to discover potential drivers of cardiomyopathy. This study addresses the knowledge gap.

    Authors: Nzali V. Campbell, David A. Weitzenkamp, Ian L. Campbell, Ronald F. Schmidt, Chindo Hicks, Michael J. Morgan, David C. Irwin and John J. Tentler

    Citation: BMC Medical Genomics 2018 11:110

    Content type: Research article

    Published on:

  39. Myocardial infarction (MI) is a multifactorial disease with complex pathogenesis, mainly the result of the interplay of genetic and environmental risk factors. The regulation of thrombosis, inflammation and ch...

    Authors: Panagiota Kontou, Athanasia Pavlopoulou, Georgia Braliou, Spyridoula Bogiatzi, Niki Dimou, Sripal Bangalore and Pantelis Bagos

    Citation: BMC Medical Genomics 2018 11:109

    Content type: Research article

    Published on:

  40. Molecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions. Population-wide implementation of such analyses is,...

    Authors:

    Citation: BMC Medical Genomics 2018 11:108

    Content type: Research article

    Published on:

    The Data Descriptor to this article has been published in Scientific Data 2019 6:257

  41. Non-small cell lung cancer (NSCLC) represents more than about 80% of the lung cancer. The early stages of NSCLC can be treated with complete resection with a good prognosis. However, most cases are detected at...

    Authors: Dan Li, William Yang, Yifan Zhang, Jack Y Yang, Renchu Guan, Dong Xu and Mary Qu Yang

    Citation: BMC Medical Genomics 2018 11(Suppl 5):106

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 5

  42. Human Down syndrome (DS) is usually caused by genomic micro-duplications and dosage imbalances of human chromosome 21. It is associated with many genomic and phenotype abnormalities. Even though human DS occur...

    Authors: Bing Feng, William Hoskins, Yan Zhang, Zibo Meng, David C. Samuels, Jiandong Wang, Ruofan Xia, Chao Liu, Jijun Tang and Yan Guo

    Citation: BMC Medical Genomics 2018 11(Suppl 5):105

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 5

  43. Breast cancer is the most common type of invasive cancer in woman. It accounts for approximately 18% of all cancer deaths worldwide. It is well known that somatic mutation plays an essential role in cancer dev...

    Authors: Yifan Zhang, William Yang, Dan Li, Jack Y Yang, Renchu Guan and Mary Qu Yang

    Citation: BMC Medical Genomics 2018 11(Suppl 5):104

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 5

  44. A protein family has similar and diverse functions locally conserved. An aligned pattern cluster (APC) can reflect the conserved functionality. Discovering aligned residue associations (ARAs) in APCs can revea...

    Authors: Pei-Yuan Zhou, Antonio Sze-To and Andrew K. C. Wong

    Citation: BMC Medical Genomics 2018 11(Suppl 5):103

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 5

  45. The right dataset is essential to obtain the right insights in data science; therefore, it is important for data scientists to have a good understanding of the availability of relevant datasets as well as the ...

    Authors: Jingyi Shi, Mingna Zheng, Lixia Yao and Yaorong Ge

    Citation: BMC Medical Genomics 2018 11(Suppl 5):102

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 5

  46. Miniature inverted-repeat transposable element (MITE) is a type of class II non-autonomous transposable element playing a crucial role in the process of evolution in biology. There is an urgent need to develop...

    Authors: Jialu Hu, Yan Zheng and Xuequn Shang

    Citation: BMC Medical Genomics 2018 11(Suppl 5):101

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 5

  47. The clinical decision support system can effectively break the limitations of doctors’ knowledge and reduce the possibility of misdiagnosis to enhance health care. The traditional genetic data storage and anal...

    Authors: Bo Xu, Changlong Li, Hang Zhuang, Jiali Wang, Qingfeng Wang, Chao Wang and Xuehai Zhou

    Citation: BMC Medical Genomics 2018 11(Suppl 5):100

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 5

  48. With the development of sequencing technology, more and more long non-coding RNAs (lncRNAs) have been identified. Some lncRNAs have been confirmed that they play an important role in the process of development...

    Authors: Jingpu Zhang, shuai Zou and Lei Deng

    Citation: BMC Medical Genomics 2018 11(Suppl 5):99

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 11 Supplement 5