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  1. Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial dysmorphism, growth retardation, developmental dela...

    Authors: Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong and Yiping Shen

    Citation: BMC Medical Genomics 2020 13:181

    Content type: Research article

    Published on:

  2. Host genetic factors such as single nucleotide variations may play a crucial role in the onset and progression of HBV-related acute-on-chronic liver failure (ACLF). However, the underlying genomic copy number ...

    Authors: Fengming Sun, Wenting Tan, Yunjie Dan, Xiuhua Wang, Yanzhi Guo and Guohong Deng

    Citation: BMC Medical Genomics 2020 13:180

    Content type: Research article

    Published on:

  3. The Cancer Genome Atlas identified four molecular subgroups of endometrial cancer with survival differences based on whole genome, transcriptomic, and proteomic characterization. Clinically accessible algorith...

    Authors: Eirwen M. Miller, Nicole E. Patterson, Gregory M. Gressel, Rouzan G. Karabakhtsian, Michal Bejerano-Sagie, Nivedita Ravi, Alexander Maslov, Wilber Quispe-Tintaya, Tao Wang, Juan Lin, Harriet O. Smith, Gary L. Goldberg, Dennis Y. S. Kuo and Cristina Montagna

    Citation: BMC Medical Genomics 2020 13:179

    Content type: Research article

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  4. Biomarker identification is one of the major and important goal of functional genomics and translational medicine studies. Large scale –omics data are increasingly being accumulated and can provide vital means...

    Authors: Animesh Acharjee, Joseph Larkman, Yuanwei Xu, Victor Roth Cardoso and Georgios V. Gkoutos

    Citation: BMC Medical Genomics 2020 13:178

    Content type: Research article

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  5. Osteogenesis imperfecta (OI) is a rare genetic disorder in which the patients suffer from numerous fractures, skeletal deformities and bluish sclera. The disorder ranges from a mild form to severe and lethal c...

    Authors: Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Aare Märtson and Sulev Kõks

    Citation: BMC Medical Genomics 2020 13:177

    Content type: Research article

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  7. Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly...

    Authors: Anna Zlotina, Olesia Melnik, Yulia Fomicheva, Rostislav Skitchenko, Alexey Sergushichev, Elena Shagimardanova, Oleg Gusev, Guzel Gazizova, Tatiana Loevets, Tatiana Vershinina, Ivan Kozyrev, Mikhail Gordeev, Elena Vasichkina, Tatiana Pervunina and Anna Kostareva

    Citation: BMC Medical Genomics 2020 13:175

    Content type: Case report

    Published on:

  8. Among all causes of death, cancer is the most prevalent and is only outpaced by cardiovascular diseases. Molecular theory of carcinogenesis states that apoptosis and proliferation are regulated by groups of tu...

    Authors: Damian Kołat, Żaneta Kałuzińska, Magdalena Orzechowska, Andrzej K. Bednarek and Elżbieta Płuciennik

    Citation: BMC Medical Genomics 2020 13:174

    Content type: Research article

    Published on:

  9. Systematic cancer screening has led to the increased detection of pre-malignant lesions (PMLs). The absence of reliable prognostic markers has led mostly to over treatment resulting in potentially unnecessary ...

    Authors: Daniela Nachmanson, Joseph Steward, Huazhen Yao, Adam Officer, Eliza Jeong, Thomas J. O’Keefe, Farnaz Hasteh, Kristen Jepsen, Gillian L. Hirst, Laura J. Esserman, Alexander D. Borowsky and Olivier Harismendy

    Citation: BMC Medical Genomics 2020 13:173

    Content type: Technical advance

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  10. Colorectal cancer (CRC) is a multifactorial tumor and a leading cause of cancer-specific deaths worldwide. Recent research has shown that the alteration of intestinal flora contributes to the development of CR...

    Authors: Jiayu Zhang, Huaiyu Zhang, Faping Li, Zheyu Song, Yezhou Li and Tiancheng Zhao

    Citation: BMC Medical Genomics 2020 13:172

    Content type: Research article

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  11. MYCN amplification is the most important genomic feature in neuroblastoma (NB). However, limited studies have been conducted on the MYCN non-amplified NB including low- and intermediate-risk NB. Here, the genomic...

    Authors: Eunjin Lee, Ji Won Lee, Boram Lee, Kyunghee Park, Joonho Shim, Keon Hee Yoo, Hong Hoe Koo, Ki Woong Sung and Woong-Yang Park

    Citation: BMC Medical Genomics 2020 13:171

    Content type: Research article

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  13. ‘Precision oncology’ can ensure the best suitable treatment at the right time by tailoring treatment towards individual patient and comprehensive tumour characteristics. In current molecular pathology, diagnos...

    Authors: Kris G. Samsom, Linda J. W. Bosch, Luuk J. Schipper, Paul Roepman, Ewart de Bruijn, Louisa R. Hoes, Immy Riethorst, Lieke Schoenmaker, Lizet E. van der Kolk, Valesca P. Retèl, Geert W. J. Frederix, Tineke E. Buffart, Jacobus J. M. van der Hoeven, Emile E. Voest, Edwin Cuppen, Kim Monkhorst…

    Citation: BMC Medical Genomics 2020 13:169

    Content type: Study protocol

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  14. Complex genomic changes that arise in tumors are a consequence of chromosomal instability. In tumor cells genomic aberrations disrupt core signaling pathways involving various genes, thus delineating of signal...

    Authors: Akeen Kour, Vasudha Sambyal, Kamlesh Guleria, Neeti Rajan Singh, Manjit Singh Uppal, Mridu Manjari and Meena Sudan

    Citation: BMC Medical Genomics 2020 13:168

    Content type: Research article

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  15. Heart failure is a leading cause of human morbidity and mortality. Circular RNAs (circRNAs) are a newly discovered class of RNA that have been found to have important physiological and pathological roles. In t...

    Authors: Kunzhe Dong, Xiangqin He, Huabo Su, David J. R. Fulton and Jiliang Zhou

    Citation: BMC Medical Genomics 2020 13:167

    Content type: Research article

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  16. Hypoxia and stemness are important factors in tumor progression. We aimed to explore the ncRNA classifier associated with hypoxia and stemness in lung adenocarcinoma (LUAD). We found that the prognosis of LUAD...

    Authors: Lili Guo, Hongxia Li, Weiying Li and Junfang Tang

    Citation: BMC Medical Genomics 2020 13:166

    Content type: Research article

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  17. Adrenocortical carcinoma (ACC) is a rare, often-aggressive neoplasm of the adrenal cortex, with a 14–17 month median overall survival. We asked whether tumors from patients with advanced or metastatic ACC woul...

    Authors: Tito Fojo, Lyn Huff, Thomas Litman, Kate Im, Maureen Edgerly, Jaydira del Rivero, Stefania Pittaluga, Maria Merino, Susan E. Bates and Michael Dean

    Citation: BMC Medical Genomics 2020 13:165

    Content type: Research article

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  18. Polygenic scores are a strategy to aggregate the small, additive effects of single nucleotide polymorphisms across the genome. With phenotypes like Alzheimer’s disease, which have a strong and well-established...

    Authors: Erin B. Ware, Jessica D. Faul, Colter M. Mitchell and Kelly M. Bakulski

    Citation: BMC Medical Genomics 2020 13:164

    Content type: Research article

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  19. The goal of our study is to investigate whether the methylation levels of AHCY and CBS promoters are related to the risk of cerebral infarction by detecting the methylation level of AHCY and CBS genes.

    Authors: Xiaodong Li, Shufang Bu, Ran Ran Pan, Cong Zhou, Kun Qu, Xiuru Ying, Jie Zhong, Jianhao Xiao, Qian Yuan, Simiao Zhang, Laura Tipton, Yunliang Wang, Youping Deng and Shiwei Duan

    Citation: BMC Medical Genomics 2020 13:163

    Content type: Research article

    Published on:

  20. Genome-wide association studies (GWAS) have proven successful in predicting genetic risk of disease using single-locus models; however, identifying single nucleotide polymorphism (SNP) interactions at the geno...

    Authors: Jennifer Luyapan, Xuemei Ji, Siting Li, Xiangjun Xiao, Dakai Zhu, Eric J. Duell, David C. Christiani, Matthew B. Schabath, Susanne M. Arnold, Shanbeh Zienolddiny, Hans Brunnström, Olle Melander, Mark D. Thornquist, Todd A. MacKenzie, Christopher I. Amos and Jiang Gui

    Citation: BMC Medical Genomics 2020 13:162

    Content type: Technical advance

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  21. Obesity contributes to high cancer risk in humans and the mechanistic links between these two pathologies are not yet understood. Recent emerging evidence has associated obesity and cancer with metabolic abnor...

    Authors: Haluk Dogan, Jiang Shu, Zeynep Hakguder, Zheng Xu and Juan Cui

    Citation: BMC Medical Genomics 2020 13:161

    Content type: Technical advance

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  22. A variety of DNA-based methods have been applied to identify genetic markers of attention deficit hyperactivity disorder (ADHD), but the connection to RNA-based gene expression has not been fully exploited.

    Authors: Timothy A. McCaffrey, Georges St. Laurent III, Dmitry Shtokalo, Denis Antonets, Yuri Vyatkin, Daniel Jones, Eleanor Battison and Joel T. Nigg

    Citation: BMC Medical Genomics 2020 13:160

    Content type: Research article

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  23. Premature ovarian failure (POF) is a highly heterogeneous disorder that occurs in 1% of women of reproductive age. Very few causative genes and variants contributing to POF have been detected, and the disease ...

    Authors: Haengun Jin, JuWon Ahn, YoungJoon Park, JeongMin Sim, Han Sung Park, Chang Soo Ryu, Nam Keun Kim and KyuBum Kwack

    Citation: BMC Medical Genomics 2020 13:159

    Content type: Research article

    Published on:

  24. NEK2 has an established involvement in hepatocellular carcinoma (HCC) but the roles of NEK2 and its interacting proteins in HCC have not been systematically explored.

    Authors: Lu Zeng, Xiude Fan, Xiaoyun Wang, Huan Deng, Xiaoge Zhang, Kun Zhang, Shan He, Na Li, Qunying Han and Zhengwen Liu

    Citation: BMC Medical Genomics 2020 13:158

    Content type: Research article

    Published on:

  25. The use of noninvasive techniques to determine paternity prenatally is increasing because it reduces the risks associated with invasive procedures. Current methods, based on SNPs, use the analysis of at least ...

    Authors: Jaqueline Yu Ting Wang, Martin R. Whittle, Renato David Puga, Anatoly Yambartsev, André Fujita and Helder I. Nakaya

    Citation: BMC Medical Genomics 2020 13:157

    Content type: Technical advance

    Published on:

  26. Cytokines are a class of small proteins that act as chemical messengers and play a significant role in essential cellular processes including immunity regulation, hematopoiesis, and inflammation. As one import...

    Authors: Trinh-Trung-Duong Nguyen, Nguyen-Quoc-Khanh Le, Quang-Thai Ho, Dinh-Van Phan and Yu-Yen Ou

    Citation: BMC Medical Genomics 2020 13(Suppl 10):155

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 10

  27. DNA methylation is a key epigenetic regulator contributing to cancer development. To understand the role of DNA methylation in tumorigenesis, it is important to investigate and compare differential methylation...

    Authors: Mai Shi, Stephen Kwok-Wing Tsui, Hao Wu and Yingying Wei

    Citation: BMC Medical Genomics 2020 13(Suppl 10):154

    Content type: Methodology

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 10

  28. Studies have found that miRNAs play an important role in many biological activities involved in human diseases. Revealing the associations between miRNA and disease by biological experiments is time-consuming ...

    Authors: Minghui Liu, Jingyi Yang, Jiacheng Wang and Lei Deng

    Citation: BMC Medical Genomics 2020 13(Suppl 10):153

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 10

  29. Vitamin K antagonist (warfarin) is the most classical and widely used oral anticoagulant with assuring anticoagulant effect, wide clinical indications and low price. Warfarin dosage requirements of different p...

    Authors: Yanyun Tao, Yuzhen Zhang and Bin Jiang

    Citation: BMC Medical Genomics 2020 13(Suppl 10):152

    Content type: Methodology

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 10

  30. Bronchoscopy for suspected lung cancer has low diagnostic sensitivity, rendering many inconclusive results. The Bronchial Genomic Classifier (BGC) was developed to help with patient management by identifying t...

    Authors: Yoonha Choi, Jianghan Qu, Shuyang Wu, Yangyang Hao, Jiarui Zhang, Jianchang Ning, Xinwu Yang, Lori Lofaro, Daniel G. Pankratz, Joshua Babiarz, P. Sean Walsh, Ehab Billatos, Marc E. Lenburg, Giulia C. Kennedy, Jon McAuliffe and Jing Huang

    Citation: BMC Medical Genomics 2020 13(Suppl 10):151

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 10

  31. Understanding the mechanisms underlying the malignant progression of cancer cells is crucial for early diagnosis and therapeutic treatment for cancer. Mutational heterogeneity of breast cancer suggests that ab...

    Authors: Ting Yu, Kwok Pui Choi, Ee Sin Chen and Louxin Zhang

    Citation: BMC Medical Genomics 2020 13(Suppl 10):150

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 10

  32. Colorectal carcinoma (CRC) is the third most common cancer in the world and also the third leading cause of cancer-related mortality in Taiwan. CRC tumorigenesis is a multistep process, starting from mutations...

    Authors: Vo-Minh-Hoang Bui, Clément Mettling, Jonathan Jou and H. Sunny Sun

    Citation: BMC Medical Genomics 2020 13(Suppl 10):149

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 10

  33. Advancements in transcriptomic profiling have led to the emergence of new challenges regarding data integration and interpretability. Variability between measurement platforms makes it difficult to compare bet...

    Authors: Laura Moody, Hong Chen and Yuan-Xiang Pan

    Citation: BMC Medical Genomics 2020 13(Suppl 10):148

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 10

  34. Treating cancer depends in part on identifying the mutations driving each patient’s disease. Many clinical laboratories are adopting high-throughput sequencing for assaying patients’ tumours, applying targeted...

    Authors: Ali Karimnezhad, Gareth A. Palidwor, Kednapa Thavorn, David J. Stewart, Pearl A. Campbell, Bryan Lo and Theodore J. Perkins

    Citation: BMC Medical Genomics 2020 13:156

    Content type: Research article

    Published on:

  35. The present study aims to investigate the complete long non-coding RNA (lncRNA) and messenger RNA (mRNA) expression profiles in Intracranial aneurysm (IA) patients and controls by RNA sequencing, which reveals...

    Authors: Yi Sun, Yeying Wen, Qishuang Ruan, Le Yang, Shuna Huang, Xingyan Xu, Yingying Cai, Huangyuan Li and Siying Wu

    Citation: BMC Medical Genomics 2020 13:147

    Content type: Research article

    Published on:

  36. Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display c...

    Authors: Shan Li, Ke-wang Xi, Ting Liu, Ying Zhang, Meng Zhang, Li-dong Zeng and Juan Li

    Citation: BMC Medical Genomics 2020 13:146

    Content type: Case report

    Published on:

  37. Identification of master regulators (MRs) using transcriptome data in cervical cancer (CC) could help us to develop biomarkers and find novel drug targets to fight this disease.

    Authors: Beiwei Yu, Long Chen, Weina Zhang, Yue Li, Yibiao Zhang, Yuan Gao, Xianlin Teng, Libo Zou, Qian Wang, Hongtao Jia, Xiangtao Liu, Hui Zheng, Ping Hou, Hongyan Yu, Ying Sun, Zhiqin Zhang…

    Citation: BMC Medical Genomics 2020 13:145

    Content type: Research article

    Published on:

  39. Detection of somatic mutations in tumor tissues helps to understand tumor biology and guide treatment selection. Methods such as quantitative PCR can analyze a few mutations with high efficiency, while next ge...

    Authors: Chang Xu, Danli Peng, Jialu Li, Meihua Chen, Yujie Hu, Mingliang Hou, Qingjuan Shang, Qi Liang, Jie Li, Wenfeng Li, Xiaoli Wu, Changbao Liu, Wanle Hu, Mao Cai, Huxiang Zhang, Guorong Chen…

    Citation: BMC Medical Genomics 2020 13:143

    Content type: Research article

    Published on:

  40. Angiogenesis is an important parameter in the development of diabetic retinopathy (DR), and it is indicative of an early stage evolving into a late phase. Therefore, examining the role of angiogenic factors in...

    Authors: Chufeng Gu, Thashi Lhamo, Chen Zou, Chuandi Zhou, Tong Su, Deji Draga, Dawei Luo, Zhi Zheng, Lili Yin and Qinghua Qiu

    Citation: BMC Medical Genomics 2020 13:142

    Content type: Research article

    Published on:

  41. A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical ano...

    Authors: Harsh Sheth, Sunil Trivedi, Thomas Liehr, Ketan Patel, Deepika Jain, Jayesh Sheth and Frenny Sheth

    Citation: BMC Medical Genomics 2020 13:141

    Content type: Case report

    Published on:

  42. Circulating tumor cells (CTCs) play a key role in cancer progression, especially metastasis, due to the rarity and heterogeneity of CTCs, fewer researches have been conducted on them at the molecular level. Ho...

    Authors: Yibing Guan, Fangshi Xu, Yiyuan Wang, Juanhua Tian, Ziyan Wan, Zhenlong Wang and Tie Chong

    Citation: BMC Medical Genomics 2020 13:140

    Content type: Research article

    Published on:

  43. Despite being caused by mutations in different genes, diseases in the same phenotypic series are clinically similar, as reported in Part I of this study. Here, in Part II, we hypothesized that the phenotypic s...

    Authors: Alessio Gamba, Mario Salmona, Laura Cantù and Gianfranco Bazzoni

    Citation: BMC Medical Genomics 2020 13:139

    Content type: Research article

    Published on:

  44. Drug resistance is a major obstacle to effective cancer therapy. In order to detect the change in tumor genomic states under drug selection pressure, we use next-generation sequencing technology to investigate...

    Authors: Zhou Tong, Cong Yan, Yu-An Dong, Ming Yao, Hangyu Zhang, Lulu Liu, Yi Zheng, Peng Zhao, Yimin Wang, Weijia Fang, Feifei Zhang and Weiqin Jiang

    Citation: BMC Medical Genomics 2020 13:138

    Content type: Research article

    Published on:

  45. Colon cancer is one of the leading causes of cancer deaths in the USA and around the world. Molecular level characters, such as gene expression levels and mutations, may provide profound information for precis...

    Authors: Jiannan Liu, Chuanpeng Dong, Guanglong Jiang, Xiaoyu Lu, Yunlong Liu and Huanmei Wu

    Citation: BMC Medical Genomics 2020 13(Suppl 9):135

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 9

  46. Compared to the conventional differential expression approach, differential coexpression analysis represents a different yet complementary perspective into diseased transcriptomes. In particular, global loss o...

    Authors: Hui Yu, Danqian Chen, Olufunmilola Oyebamiji, Ying-Yong Zhao and Yan Guo

    Citation: BMC Medical Genomics 2020 13(Suppl 9):134

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 9

  47. Developing binary classification rules based on SNP observations has been a major challenge for many modern bioinformatics applications, e.g., predicting risk of future disease events in complex conditions suc...

    Authors: Ali Foroughi pour, Maciej Pietrzak, Lara E. Sucheston-Campbell, Ezgi Karaesmen, Lori A. Dalton and Grzegorz A. Rempała

    Citation: BMC Medical Genomics 2020 13(Suppl 9):133

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 9

  48. Though accounts for 2.5% of all cancers in female, the death rate of ovarian cancer is high, which is the fifth leading cause of cancer death (5% of all cancer death) in female. The 5-year survival rate of ova...

    Authors: Tianyu Zhang, Liwei Zhang and Fuhai Li

    Citation: BMC Medical Genomics 2020 13(Suppl 9):132

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 9

  49. Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk, respectively. Both tumors can occur jointly...

    Authors: Vladislav S. Pavlov, Dmitry V. Kalinin, Elena N. Lukyanova, Alexander L. Golovyuk, Maria S. Fedorova, Elena A. Pudova, Maria V. Savvateeva, Anastasiya V. Lipatova, Zulfiya G. Guvatova, Andrey D. Kaprin, Marina V. Kiseleva, Tatiana B. Demidova, Sergey A. Simanovsky, Nataliya V. Melnikova, Alexey A. Dmitriev, George S. Krasnov…

    Citation: BMC Medical Genomics 2020 13(Suppl 8):125

    Content type: Case report

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 8

  50. Single nucleotide variants account for approximately 90% of all known pathogenic variants responsible for human diseases. Recently discovered CRISPR/Cas9 base editors can correct individual nucleotides without...

    Authors: Alexander V. Lavrov, Georgi G. Varenikov and Mikhail Yu Skoblov

    Citation: BMC Medical Genomics 2020 13(Suppl 8):80

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 8

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