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  1. 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

  2. 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

  3. 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:

  4. 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

  5. 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

  6. 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

  7. 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:

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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:

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. 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

  26. 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:

  27. 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:

  28. 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

  29. 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:

  30. 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:

  31. 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:

  32. 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:

  33. Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have been characterized for the loss of genetic material. The genes located in these chromosomal regions are related to the phe...

    Authors: César Paz-y-Miño, Ana Proaño, Stella D. Verdezoto, Juan Luis García, Jesús María Hernández-Rivas and Paola E. Leone

    Citation: BMC Medical Genomics 2019 12:167

    Content type: Case report

    Published on:

  34. 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

  35. 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:

  36. Hepatocellular carcinoma (HCC) is the major type of primary liver cancer. Intrahepatic metastasis, such as portal vein tumor thrombosis (PVTT), strongly indicates poor prognosis of HCC. But now, there are limi...

    Authors: Dongfang Wang, Yanjing Zhu, Jing Tang, Qiuyu Lian, Guijuan Luo, Wen Wen, Michael Q. Zhang, Hongyang Wang, Lei Chen and Jin Gu

    Citation: BMC Medical Genomics 2019 12:164

    Content type: Research article

    Published on:

  37. Progestin is effective to promote endometrial cancer (EC) cells apoptosis, however, continuous progestin administration causes low level of progestin receptor B (PRB), further resulting in progestin resistance...

    Authors: Wenjiao Cao, Wuyuan Gao, Panchan Zheng, Xiao Sun and Lihua Wang

    Citation: BMC Medical Genomics 2019 12:163

    Content type: Research article

    Published on:

  38. Patients with metastatic colorectal cancer can benefit from anti-EGFR therapy, such as cetuximab and panitumumab. However, colorectal cancers harboring constitutive activating mutations in KRAS, NRAS and BRAF gen...

    Authors: Yuki Nagakubo, Yosuke Hirotsu, Kenji Amemiya, Toshio Oyama, Hitoshi Mochizuki and Masao Omata

    Citation: BMC Medical Genomics 2019 12:162

    Content type: Research article

    Published on:

  39. In 2012, Venet et al. proposed that at least in the case of breast cancer, most published signatures are not significantly more associated with outcome than randomly generated signatures. They suggested that n...

    Authors: Elnaz Saberi Ansar, Changiz Eslahchii, Mahsa Rahimi, Lobat Geranpayeh, Marzieh Ebrahimi, Rosa Aghdam and Gwenneg Kerdivel

    Citation: BMC Medical Genomics 2019 12:160

    Content type: Research Article

    Published on:

  40. The microRNA-17-92 (miR-17-92) cluster is one of the most extensively studied miRNA clusters. Abnormal expression of the cluster has been found to play important role in different kinds of human diseases, incl...

    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 12:159

    Content type: Research article

    Published on:

    The Correction to this article has been published in BMC Medical Genomics 2019 12:176

  41. Preimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized P...

    Authors: Haining Luo, Chao Chen, Yun Yang, Yinfeng Zhang, Yuan Yuan, Wanyang Wang, Renhua Wu, Zhiyu Peng, Ying Han, Lu Jiang, Ruqiang Yao, Xiaoying An, Weiwei Zhang, Yanqun Le, Jiale Xiang, Na Yi…

    Citation: BMC Medical Genomics 2019 12:157

    Content type: Research article

    Published on:

  42. Non-syndromic intellectual disability is genetically heterogeneous with dominant, recessive and complex forms of inheritance. We have performed detailed genetic studies in a large multi-generational Swedish fa...

    Authors: Eva Lindholm Carlström, Jonatan Halvardson, Mitra Etemadikhah, Lennart Wetterberg, Karl-Henrik Gustavson and Lars Feuk

    Citation: BMC Medical Genomics 2019 12:156

    Content type: Research article

    Published on:

  43. .

    Authors: Benjamin S. Glicksberg, Letizia Amadori, Nicholas K. Akers, Katyayani Sukhavasi, Oscar Franzén, Li Li, Gillian M. Belbin, Kristin L. Ayers, Khader Shameer, Marcus A. Badgeley, Kipp W. Johnson, Ben Readhead, Bruce J. Darrow, Eimear E. Kenny, Christer Betsholtz, Raili Ermel…

    Citation: BMC Medical Genomics 2019 12:154

    Content type: Correction

    Published on:

    The original article was published in BMC Medical Genomics 2019 12:108

  44. During human pregnancy, placental trophectoderm cells release extracellular vesicles (EVs) into maternal circulation. Trophoblasts also give rise to cell-free DNA (cfDNA) in maternal blood, and has been used f...

    Authors: Weiting Zhang, Sen Lu, Dandan Pu, Haiping Zhang, Lin Yang, Peng Zeng, Fengxia Su, Zhichao Chen, Mei Guo, Ying Gu, Yanmei Luo, Huamei Hu, Yanping Lu, Fang Chen and Ya Gao

    Citation: BMC Medical Genomics 2019 12:151

    Content type: Research article

    Published on:

  45. Dementia with Lewy bodies (DLB) is the second most common subtype of neurodegenerative dementia in humans following Alzheimer’s disease (AD). Present clinical diagnosis of DLB has high specificity and low sens...

    Authors: Daichi Shigemizu, Shintaro Akiyama, Yuya Asanomi, Keith A. Boroevich, Alok Sharma, Tatsuhiko Tsunoda, Takashi Sakurai, Kouichi Ozaki, Takahiro Ochiya and Shumpei Niida

    Citation: BMC Medical Genomics 2019 12:150

    Content type: Research article

    Published on:

  46. Genetics play an important role in intracranial aneurysm (IA) pathophysiology. Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) that are linked to IA but how they ...

    Authors: Kerry E. Poppenberg, Kaiyu Jiang, Michael K. Tso, Kenneth V. Snyder, Adnan H. Siddiqui, John Kolega, James N. Jarvis, Hui Meng and Vincent M. Tutino

    Citation: BMC Medical Genomics 2019 12:149

    Content type: Research article

    Published on:

  47. Plasmodium falciparum malaria remains a major health problem in Africa. The mechanisms of pathogenesis are not fully understood. Transcriptomic studies may provide new insights into molecular pathways involved in...

    Authors: Alassane Thiam, Michel Sanka, Rokhaya Ndiaye Diallo, Magali Torres, Babacar Mbengue, Nicolas Fernandez Nunez, Fatou Thiam, Gora Diop, Geneviève Victorero, Catherine Nguyen, Alioune Dieye and Pascal Rihet

    Citation: BMC Medical Genomics 2019 12:148

    Content type: Research article

    Published on:

  48. Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide, especially in East Asia. Even with the progress in therapy, 5-year survival rates remain unsatisfied. Chronic infection with the hepa...

    Authors: Suofeng Sun, Yuan Li, Shuangyin Han, Hongtao Jia, Xiuling Li and Xiaofang Li

    Citation: BMC Medical Genomics 2019 12:147

    Content type: Research article

    Published on: