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  1. Content type: Research

    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

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

  2. Content type: Research

    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

    Published on:

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

  3. Content type: Research article

    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

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  4. Content type: Research article

    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

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  6. Content type: Research article

    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

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  7. Content type: Research article

    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

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  8. Content type: Technical advance

    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

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  9. Content type: Case report

    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

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  10. Content type: Case report

    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

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  11. Content type: Research article

    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

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  12. Content type: Research article

    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

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  14. Content type: Research article

    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

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  15. Content type: Research

    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

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

  16. Content type: Research

    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

    Published on:

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

  17. Content type: Research

    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

    Published on:

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

  18. Content type: Research

    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

    Published on:

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

  19. Content type: Research

    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

    Published on:

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

  20. Content type: Research

    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

    Published on:

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

  21. Content type: Research

    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

    Published on:

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

  22. Content type: Research

    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

    Published on:

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

  23. Content type: Research

    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

    Published on:

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

  24. Content type: Research article

    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

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  25. Content type: Case report

    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

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  26. Content type: Research article

    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

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  27. Content type: Case report

    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

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  28. Content type: Research article

    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

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  29. Content type: Research article

    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

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  30. Content type: Research article

    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

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  31. Content type: Research article

    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

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  33. Content type: Research

    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

    Published on:

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

  34. Content type: Research

    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

    Published on:

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

  35. Content type: Research

    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

    Published on:

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

  36. Content type: Research

    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

    Published on:

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

  37. Content type: Research

    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

    Published on:

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

  38. Content type: Research

    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

    Published on:

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

  39. Content type: Research

    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

    Published on:

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

  40. Content type: Research

    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

    Published on:

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

  41. Content type: Research

    While continental level ancestry is relatively simple using genomic information, distinguishing between individuals from closely associated sub-populations (e.g., from the same continent) is still a difficult ...

    Authors: Tanjin T. Toma, Jeremy M. Dawson and Donald A. Adjeroh

    Citation: BMC Medical Genomics 2018 11(Suppl 5):0

    Published on:

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

  42. Content type: Technical advance

    The integration of high-quality, genome-wide analyses offers a robust approach to elucidating genetic factors involved in complex human diseases. Even though several methods exist to integrate heterogeneous om...

    Authors: Haley R. Eidem, Jacob L. Steenwyk, Jennifer H. Wisecaver, John A. Capra, Patrick Abbot and Antonis Rokas

    Citation: BMC Medical Genomics 2018 11:107

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  43. Content type: Research article

    Recent large-scale cancer sequencing studies have discovered many novel cancer driver genes (CDGs) in human cancers. Some studies also suggest that CDG mutations contribute to cancer-associated epigenomic and ...

    Authors: Ahrim Youn, Kyung In Kim, Raul Rabadan, Benjamin Tycko, Yufeng Shen and Shuang Wang

    Citation: BMC Medical Genomics 2018 11:98

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  44. Content type: Research article

    BAP1 is a histone deubiquitinase that acts as a tumor and metastasis suppressor associated with disease progression in human cancer. We have used the “Calling Card System” of transposase-directed transposon in...

    Authors: Matthew Yen, Zongtai Qi, Xuhua Chen, John A. Cooper, Robi D. Mitra and Michael D. Onken

    Citation: BMC Medical Genomics 2018 11:97

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  45. Content type: Research article

    Glioblastoma multiforme, the most prevalent and aggressive brain tumour, has a poor prognosis. The molecular mechanisms underlying gliomagenesis remain poorly understood. Therefore, molecular research, includi...

    Authors: Pengfei Xu, Jian Yang, Junhui Liu, Xue Yang, Jianming Liao, Fanen Yuan, Yang Xu, Baohui Liu and Qianxue Chen

    Citation: BMC Medical Genomics 2018 11:96

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  46. Content type: Database

    Nucleotide Excision Repair (NER) is a major pathway of mammalian DNA repair that is associated with drug resistance and has not been well characterized in acute lymphoblastic leukemia (ALL). The objective of t...

    Authors: Omar M. Ibrahim, Homood M. As Sobeai, Stephen G. Grant and Jean J. Latimer

    Citation: BMC Medical Genomics 2018 11:95

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  48. Content type: Research article

    Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal...

    Authors: Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham…

    Citation: BMC Medical Genomics 2018 11:93

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  49. Content type: Case report

    Verheij syndrome is a rare microdeletion syndrome of chromosome 8q24.3 that harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss of function mutations in PUF60 have been found in children with clinical featu...

    Authors: Qiong Xu, Chun-yang Li, Yi Wang, Hui-ping Li, Bing-bing Wu, Yong-hui Jiang and Xiu Xu

    Citation: BMC Medical Genomics 2018 11:92

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  50. Content type: Technical advance

    Detection of copy number variants (CNVs) is an important aspect of clinical testing for several disorders, including Duchenne muscular dystrophy, and is often performed using multiplex ligation-dependent probe...

    Authors: Velina Kozareva, Clayton Stroff, Maxwell Silver, Jonathan F. Freidin and Nigel F. Delaney

    Citation: BMC Medical Genomics 2018 11:91

    Published on:

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