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  1. Prostate cancer (PCa) has the highest incidence rates of cancers in men in western countries. Unlike several other types of cancer, PCa has few genetic drivers, which has led researchers to look for additional...

    Authors: Ieva Rauluseviciute, Finn Drabløs and Morten Beck Rye

    Citation: BMC Medical Genomics 2020 13:6

    Content type: Research article

    Published on:

  2. Membranous glomerulonephritis (MGN) is a common kidney disease. Despite many evidences support that many immune and inflammation-related genes could serve as effective biomarkers and treatment targets for MGN ...

    Authors: Chengwei Zhang, Lei Leng, Zhaozheng Li, Yao Zhao and Jundong Jiao

    Citation: BMC Medical Genomics 2020 13:5

    Content type: Research article

    Published on:

  3. Dysregulation of alternative splicing (AS) is a critical signature of cancer. However, the regulatory mechanisms of cancer-specific AS events, especially the impact of DNA methylation, are poorly understood.

    Authors: Xiaohui Sun, Yiping Tian, Jianming Wang, Zeyuan Sun and Yimin Zhu

    Citation: BMC Medical Genomics 2020 13:4

    Content type: Research article

    Published on:

  4. MiR-182-5p, a cancer-related microRNA (miRNA), modulates tumorigenesis and patient outcomes in various human malignances. This study interroted the clinicopathological significance and molecular mechanisms of ...

    Authors: Li Gao, Shi-bai Yan, Jie Yang, Jin-liang Kong, Ke Shi, Fu-chao Ma, Lin-zhen Huang, Jie Luo, Shu-ya Yin, Rong-quan He, Xiao-hua Hu and Gang Chen

    Citation: BMC Medical Genomics 2020 13:3

    Content type: Research article

    Published on:

  5. 12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been character...

    Authors: Sofia Dória, Daniela Alves, Maria João Pinho, Joel Pinto and Miguel Leão

    Citation: BMC Medical Genomics 2020 13:2

    Content type: Case report

    Published on:

  6. Osteoarthritis is a chronic musculoskeletal disease characterized by age-related gradual thinning and a high risk in females. Recent studies have shown that DNA methylation plays important roles in osteoarthri...

    Authors: Xiaozong Lin, Li Li, Xiaojuan Liu, Jun Tian, Weizhuo Zheng, Jin Li and Limei Wang

    Citation: BMC Medical Genomics 2020 13:1

    Content type: Research article

    Published on:

  7. The clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant gene...

    Authors: Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet and Simon Fishilevich

    Citation: BMC Medical Genomics 2019 12:200

    Content type: Software

    Published on:

  8. Cancer as a kind of genomic alteration disease each year deprives many people’s life. The biggest challenge to overcome cancer is to identify driver genes that promote the cancer development from a huge amount...

    Authors: Junrong Song, Wei Peng, Feng Wang and Jianxin Wang

    Citation: BMC Medical Genomics 2019 12(Suppl 7):168

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  9. Comorbidity is the phenomenon of two or more diseases occurring simultaneously not by random chance and presents great challenges to accurate diagnosis and treatment. As an effort toward better understanding t...

    Authors: Pakeeza Akram and Li Liao

    Citation: BMC Medical Genomics 2019 12(Suppl 7):161

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  10. Colon cancer is one of the common cancers in human. Although the number of annual cases has decreased drastically, prognostic screening and translational methods can be improved. Hence, it is critical to under...

    Authors: Jia Wen, Benika Hall and Xinghua Shi

    Citation: BMC Medical Genomics 2019 12(Suppl 7):158

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  11. Gene co-expression network is a favorable method to reveal the nature of disease. With the development of cancer, the way to build gene co-expression networks based on cancer data has been become a hot spot. H...

    Authors: Mi-Xiao Hou, Ying-Lian Gao, Jin-Xing Liu, Junliang Shang, Rong Zhu and Sha-Sha Yuan

    Citation: BMC Medical Genomics 2019 12(Suppl 7):155

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  12. Advanced non-invasive neuroimaging techniques offer new approaches to study functions and structures of human brains. Whole-brain functional networks obtained from resting state functional magnetic resonance i...

    Authors: Lingkai Tang, Sakib Mostafa, Bo Liao and Fang-Xiang Wu

    Citation: BMC Medical Genomics 2019 12(Suppl 7):153

    Content type: Technical Advance

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  13. Although there are huge volumes of genomic data, how to decipher them and identify driver events is still a challenge. The current methods based on network typically use the relationship between genomic events...

    Authors: Ying Hui, Pi-Jing Wei, Junfeng Xia, Yu-Tian Wang and Chun-Hou Zheng

    Citation: BMC Medical Genomics 2019 12(Suppl 7):140

    Content type: Methodology

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  14. Detecting single nucleotide polymorphism (SNP) interactions is an important and challenging task in genome-wide association studies (GWAS). Various efforts have been devoted to detect SNP interactions. However...

    Authors: Xia Cao, Jie Liu, Maozu Guo and Jun Wang

    Citation: BMC Medical Genomics 2019 12(Suppl 7):139

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  15. In genome-wide association study (GWAS), conventional interaction detection methods such as BOOST are mostly based on SNP-SNP interactions. Although single nucleotides are the building blocks of human genome, ...

    Authors: Sen Zhang, Wei Jiang, Ronald CW Ma and Weichuan Yu

    Citation: BMC Medical Genomics 2019 12(Suppl 7):133

    Content type: Methodology

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  16. Most statistical methods used to identify cancer driver genes are either biased due to choice of assumed parametric models or insensitive to directional relationships important for causal inference. To overcom...

    Authors: Hua Zhong and Mingzhou Song

    Citation: BMC Medical Genomics 2019 12(Suppl 7):129

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  17. Systemic sclerosis (SSc), a multi-organ disorder, is characterized by vascular abnormalities, dysregulation of the immune system, and fibrosis. The mechanisms underlying tissue pathology in SSc have not been e...

    Authors: Elham Karimizadeh, Ali Sharifi-Zarchi, Hassan Nikaein, Seyedehsaba Salehi, Bahar Salamatian, Naser Elmi, Farhad Gharibdoost and Mahdi Mahmoudi

    Citation: BMC Medical Genomics 2019 12:199

    Content type: Research article

    Published on:

  18. Recent high throughput technologies have been applied for collecting heterogeneous biomedical omics datasets. Computational analysis of the multi-omics datasets could potentially reveal deep insights for a giv...

    Authors: Yin Guo, Huiran Li, Menglan Cai and Limin Li

    Citation: BMC Medical Genomics 2019 12(Suppl 9):191

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 9

  19. The application of next-generation sequencing in cancer has revealed the genomic landscape of many tumour types and is nowadays routinely used in research and clinical settings. Multiple algorithms have been d...

    Authors: Qing Wang, Vassiliki Kotoula, Pei-Chen Hsu, Kyriaki Papadopoulou, Joshua W. K. Ho, George Fountzilas and Eleni Giannoulatou

    Citation: BMC Medical Genomics 2019 12(Suppl 9):181

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 9

  20. With the increasing amount of high-throughput genomic sequencing data, there is a growing demand for a robust and flexible tool to perform interaction analysis. The identification of SNP-SNP, SNP-CpG, and high...

    Authors: Rui Sun, Xiaoxuan Xia, Ka Chun Chong, Benny Chung-Ying Zee, William Ka Kei Wu and Maggie Haitian Wang

    Citation: BMC Medical Genomics 2019 12(Suppl 9):180

    Content type: Software

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 9

  21. Rhabdomyosarcoma (RMS), a common soft-tissue malignancy in pediatrics, presents high invasiveness and mortality. However, besides known changes in the PAX3/7-FOXO1 fusion gene in alveolar RMS, the molecular me...

    Authors: Qianru Li, Liang Zhang, Jinfang Jiang, Yangyang Zhang, Xiaomeng Wang, Qiaochu Zhang, Yang Wang, Chunxia Liu and Feng Li

    Citation: BMC Medical Genomics 2019 12:198

    Content type: Research article

    Published on:

  22. Understanding the complex biological mechanisms of cancer patient survival using genomic and clinical data is vital, not only to develop new treatments for patients, but also to improve survival prediction. Ho...

    Authors: Jie Hao, Youngsoon Kim, Tejaswini Mallavarapu, Jung Hun Oh and Mingon Kang

    Citation: BMC Medical Genomics 2019 12(Suppl 10):189

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

  23. Prediction of pathogenic genes is crucial for disease prevention, diagnosis, and treatment. But traditional genetic localization methods are often technique-difficulty and time-consuming. With the development ...

    Authors: Bo Xu, Yu Liu, Shuo Yu, Lei Wang, Jie Dong, Hongfei Lin, Zhihao Yang, Jian Wang and Feng Xia

    Citation: BMC Medical Genomics 2019 12(Suppl 10):188

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

  24. As a standardized vocabulary of phenotypic abnormalities associated with human diseases, the Human Phenotype Ontology (HPO) has been widely used by researchers to annotate phenotypes of genes/proteins. For sav...

    Authors: Junning Gao, Lizhi Liu, Shuwei Yao, Xiaodi Huang, Hiroshi Mamitsuka and Shanfeng Zhu

    Citation: BMC Medical Genomics 2019 12(Suppl 10):187

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

  25. It is significant to identificate complex biological mechanisms of various diseases in biomedical research. Recently, the growing generation of tremendous amount of data in genomics, epigenomics, metagenomics,...

    Authors: Yun Xiong, Mengjie Guo, Lu Ruan, Xiangnan Kong, Chunlei Tang, Yangyong Zhu and Wei Wang

    Citation: BMC Medical Genomics 2019 12(Suppl 10):186

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

  26. Studies have shown that miRNAs are functionally associated with the development of many human diseases, but the roles of miRNAs in diseases and their underlying molecular mechanisms have not been fully underst...

    Authors: Yingjun Ma, Tingting He, Leixin Ge, Chenhao Zhang and Xingpeng Jiang

    Citation: BMC Medical Genomics 2019 12(Suppl 10):185

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

  27. Accurate inference of the evolutionary history of a tumor has important implications for understanding and potentially treating the disease. While a number of methods have been proposed to reconstruct the evol...

    Authors: Kiran Tomlinson and Layla Oesper

    Citation: BMC Medical Genomics 2019 12(Suppl 10):184

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

  28. Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytog...

    Authors: Shaohua Sun, Fang Zhan, Jiusheng Jiang, Xuerui Zhang, Lei Yan, Weiyi Cai, Hailiang Liu and Donghua Cao

    Citation: BMC Medical Genomics 2019 12:197

    Content type: Case report

    Published on:

  29. An important task in the interpretation of sequencing data is to highlight pathogenic genes (or detrimental variants) in the field of Mendelian diseases. It is still challenging despite the recent rapid develo...

    Authors: Yanhuang Jiang, Chengkun Wu, Yanghui Zhang, Shaowei Zhang, Shuojun Yu, Peng Lei, Qin Lu, Yanwei Xi, Hua Wang and Zhuo Song

    Citation: BMC Medical Genomics 2019 12(Suppl 8):193

    Content type: Software

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 8

  30. The early diagnosis of lung cancer has been a critical problem in clinical practice for a long time and identifying differentially expressed gene as disease marker is a promising solution. However, the most ex...

    Authors: Zhixun Zhao, Hui Peng, Xiaocai Zhang, Yi Zheng, Fang Chen, Liang Fang and Jinyan Li

    Citation: BMC Medical Genomics 2019 12(Suppl 8):183

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 8

  31. Molecular characterization of individual cancer patients is important because cancer is a complex and heterogeneous disease with many possible genetic and environmental causes. Many studies have been conducted...

    Authors: Byungkyu Park, Wook Lee, Inhee Park and Kyungsook Han

    Citation: BMC Medical Genomics 2019 12(Suppl 8):179

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 8

  32. The availability of high-throughput omics datasets from large patient cohorts has allowed the development of methods that aim at predicting patient clinical outcomes, such as survival and disease recurrence. S...

    Authors: Léon-Charles Tranchevent, Francisco Azuaje and Jagath C. Rajapakse

    Citation: BMC Medical Genomics 2019 12(Suppl 8):178

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 8

  33. Hepatitis B virus (HBV), hepatitis C virus (HCV), and alcohol consumption are predominant causes of hepatocellular carcinoma (HCC). However, the molecular mechanisms underlying how differently these causes are...

    Authors: Young-Joo Jin, Seyoun Byun, Seonggyun Han, John Chamberlin, Dongwook Kim, Min Jung Kim and Younghee Lee

    Citation: BMC Medical Genomics 2019 12(Suppl 8):175

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 8

  34. To facilitate the investigation of the pathogenic roles played by various immune cells in complex tissues such as tumors, a few computational methods for deconvoluting bulk gene expression profiles to predict ...

    Authors: Yen-Jung Chiu, Yi-Hsuan Hsieh and Yen-Hua Huang

    Citation: BMC Medical Genomics 2019 12(Suppl 8):169

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 8

  35. Hypospadias risk–associated gene variants have been reported in populations of European descent using genome-wide association studies (GWASs). There is little known at present about any possible hypospadias ri...

    Authors: Zhongzhong Chen, Xiaoling Lin, Yunping Lei, Haitao Chen, Richard H. Finnell, Yaping Wang, Jianfeng Xu, Daru Lu, Hua Xie and Fang Chen

    Citation: BMC Medical Genomics 2019 12:196

    Content type: Research article

    Published on:

  36. Formalin-fixed, paraffin-embedded (FFPE) tissues for RNA-seq have advantages over fresh frozen tissue including abundance and availability, connection to rich clinical data, and association with patient outcom...

    Authors: Nathan D. Pennock, Sonali Jindal, Wesley Horton, Duanchen Sun, Jayasri Narasimhan, Lucia Carbone, Suzanne S. Fei, Robert Searles, Christina A. Harrington, Julja Burchard, Sheila Weinmann, Pepper Schedin and Zheng Xia

    Citation: BMC Medical Genomics 2019 12:195

    Content type: Research article

    Published on:

  37. Competitive endogenous RNAs (ceRNAs) have revealed a new mechanism of interaction between RNAs. However, an understanding of the ceRNA regulatory network in Wilms tumour (WT) remains limited.

    Authors: Fucai Tang, Zechao Lu, Jiamin Wang, Zhibiao Li, Weijia Wu, Haifeng Duan and Zhaohui He

    Citation: BMC Medical Genomics 2019 12:194

    Content type: Research article

    Published on:

  38. Neuroblastoma (NB) is the most common extracranial solid tumor found in children. The frequent gain/loss of many chromosome bands in tumor cells and absence of mutations found at diagnosis suggests that NB is ...

    Authors: Chao Qin, Xiaoyan He, Yanding Zhao, Chun-Yip Tong, Kenneth Y. Zhu, Yongqi Sun and Chao Cheng

    Citation: BMC Medical Genomics 2019 12:192

    Content type: Research article

    Published on:

  39. Disease comorbidity is popular and has significant indications for disease progress and management. We aim to detect the general disease comorbidity patterns in Chinese populations using a large-scale clinical...

    Authors: Mengfei Guo, Yanan Yu, Tiancai Wen, Xiaoping Zhang, Baoyan Liu, Jin Zhang, Runshun Zhang, Yanning Zhang and Xuezhong Zhou

    Citation: BMC Medical Genomics 2019 12(Suppl 12):177

    Content type: Research

    Published on:

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

  40. When ordering genetic testing or triaging candidate variants in exome and genome sequencing studies, it is critical to generate and test a comprehensive list of candidate genes that succinctly describe the com...

    Authors: Aditya Ekawade, Matt Velinder, Alistair Ward, Tonya DiSera, Chase Miller, Yi Qiao and Gabor Marth

    Citation: BMC Medical Genomics 2019 12:190

    Content type: Software

    Published on:

  41. Female carriers of a balanced X; autosome translocation generally undergo selective inactivation of the normal X chromosome. This is because inactivation of critical genes within the autosomal region of the de...

    Authors: Makiko Tsutsumi, Hiroyoshi Hattori, Nobuhiro Akita, Naoko Maeda, Toshinobu Kubota, Keizo Horibe, Naoko Fujita, Miki Kawai, Yasuko Shinkai, Maki Kato, Takema Kato, Rie Kawamura, Fumihiko Suzuki and Hiroki Kurahashi

    Citation: BMC Medical Genomics 2019 12:182

    Content type: Case report

    Published on:

  42. Following publication of the original article [1], it was reported that during the production process, Fig. 3b was omitted from the final article.

    Authors: Huatuo Huang, Guijiang Wei, Chunfang Wang, Yulan Lu, Chunhong Liu, Rong Wang, Xiang Shi, Jun Yang and Yesheng Wei

    Citation: BMC Medical Genomics 2019 12:176

    Content type: Correction

    Published on:

    The original article was published in BMC Medical Genomics 2019 12:159

  43. In recent years, the amount of genomic data produced in clinical genetics services has increased significantly due to the advent of next-generation sequencing. This influx of genomic information leads to conti...

    Authors: Julia El Mecky, Lennart Johansson, Mirjam Plantinga, Angela Fenwick, Anneke Lucassen, Trijnie Dijkhuizen, Annemieke van der Hout, Kate Lyle and Irene van Langen

    Citation: BMC Medical Genomics 2019 12:170

    Content type: Research article

    Published on:

  44. Psoriasis is a chronic inflammatory skin disease characterized by hyperproliferation and abnormal differentiation of keratinocytes. It is one of the most prevalent chronic inflammatory skin conditions in adult...

    Authors: Liviu-Ionut Moldovan, Thomas Birkballe Hansen, Morten Trillingsgaard Venø, Trine Line Hauge Okholm, Thomas Levin Andersen, Henrik Hager, Lars Iversen, Jørgen Kjems, Claus Johansen and Lasse Sommer Kristensen

    Citation: BMC Medical Genomics 2019 12:174

    Content type: Research article

    Published on:

  45. Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants.

    Authors: Tanya Papaz, Eriskay Liston, Laura Zahavich, Dimitri J. Stavropoulos, Rebekah K. Jobling, Raymond H. Kim, Miriam Reuter, Anastasia Miron, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F. Smythe, Luis Altamirano-Diaz, Jane Lougheed, Roderick Yao, Oyediran Akinrinade…

    Citation: BMC Medical Genomics 2019 12:173

    Content type: Research article

    Published on:

  46. Immune escape is one of the hallmarks of cancer and several new treatment approaches attempt to modulate and restore the immune system’s capability to target cancer cells. At the heart of the immune recognitio...

    Authors: Eric Blanc, Manuel Holtgrewe, Arunraj Dhamodaran, Clemens Messerschmidt, Gerald Willimsky, Thomas Blankenstein and Dieter Beule

    Citation: BMC Medical Genomics 2019 12:171

    Content type: Research Article

    Published on:

  47. Following publication of the original article [1], the authors provided an updated accession number in the “Availability of data and materials” section of the declarations.

    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 2019 12:166

    Content type: Correction

    Published on:

    The original article was published in BMC Medical Genomics 2017 10:58

  48. Previously developed classifications of glioma have provided enormous advantages for the diagnosis and treatment of glioma. Although the role of alternative splicing (AS) in cancer, especially in glioma, has b...

    Authors: Yaomin Li, Zhonglu Ren, Yuping Peng, Kaishu Li, Xiran Wang, Guanglong Huang, Songtao Qi and Yawei Liu

    Citation: BMC Medical Genomics 2019 12:165

    Content type: Research article

    Published on: