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  1. Acute myocardial infarction (AMI) is a major contributor of heart failure (HF). Peripheral blood mononuclear cells (PBMCs), mainly monocytes, are the essential initiators of AMI-induced HF. The powerful biomar...

    Authors: Qixin Chen, Qijin Yin, Junxian Song, Chuanfen Liu, Hong Chen and Sufang Li

    Citation: BMC Medical Genomics 2021 14:44

    Content type: Research article

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  2. Sepsis is a life-threatening complication of infection that rapidly triggers tissue damage in multiple organ systems and leads to multi-organ deterioration. Up to date, prognostic biomarkers still have limitat...

    Authors: Anlin Feng, Wenli Ma, Reem Faraj, Gabriel T. Kelly, Stephen M. Black, Michael B. Fallon and Ting Wang

    Citation: BMC Medical Genomics 2021 14:43

    Content type: Research article

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  3. Pancreatic cancer is one of the most common malignant tumors of the digestive tract, and it has a poor prognosis. Traditional methods are not effective to accurately assess the prognosis of patients with pancr...

    Authors: Wenting Wang, Zhijian Xu, Ning Wang, Ruyong Yao, Tao Qin, Hao Lin and Lu Yue

    Citation: BMC Medical Genomics 2021 14:42

    Content type: Research article

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  4. Treatment options for hepatocellular carcinoma (HCC) are limited, and overall survival is poor. Despite the high frequency of this malignoma, its basic disease mechanisms are poorly understood. Therefore, the ...

    Authors: Tatiana Meier, Max Timm, Matteo Montani and Ludwig Wilkens

    Citation: BMC Medical Genomics 2021 14:41

    Content type: Research article

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  5. Degeneration of intervertebral disc is a major cause of lower back pain and neck pain. Studies have tried to unveil the regulatory network using either transcriptomic or proteomic analysis. However, neither ha...

    Authors: Chen Xu, Shengchang Luo, Leixin Wei, Huiqiao Wu, Wei Gu, Wenchao Zhou, Baifeng Sun, Bo Hu, Hongyu Zhou, Yang Liu, Huajiang Chen, Xiaojian Ye and Wen Yuan

    Citation: BMC Medical Genomics 2021 14:40

    Content type: Research article

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  6. Acute myeloid leukemia (AML) is biologically heterogeneous diseases with adverse prognosis. This study was conducted to find prognostic biomarkers that could effectively classify AML patients and provide guida...

    Authors: Yanli Lai, Guifang OuYang, Lixia Sheng, Yanli Zhang, Binbin Lai and Miao Zhou

    Citation: BMC Medical Genomics 2021 14:39

    Content type: Research article

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  7. Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate...

    Authors: Hossein Fahimi, Samira Behroozi, Sadaf Noavar and Farshid Parvini

    Citation: BMC Medical Genomics 2021 14:37

    Content type: Research article

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  8. Colon cancer (CC) is one of the most common malignant tumors, while Parkinson’s disease (PD) is the second most common neurodegenerative disorder. Recent accumulating evidence indicates that these two diseases...

    Authors: Suyan Tian, Mingyue Zhang and Zhiming Ma

    Citation: BMC Medical Genomics 2021 14:36

    Content type: Research article

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  9. Single-cell sequencing technologies provide unprecedented opportunities to deconvolve the genomic, transcriptomic or epigenomic heterogeneity of complex biological systems. Its application in samples from xeno...

    Authors: Stefano Cheloni, Roman Hillje, Lucilla Luzi, Pier Giuseppe Pelicci and Elena Gatti

    Citation: BMC Medical Genomics 2021 14:34

    Content type: Software

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  10. Mutations in the PRKAG2 gene encoding the 5′ Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically in its γ2 regulatory subunit, lead to Glycogen storage disease of heart, fetal congenital diso...

    Authors: Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Alireza Alborzi and Alireza Shojazadeh

    Citation: BMC Medical Genomics 2021 14:33

    Content type: Case report

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  11. Peripheral immune response has been revealed to play a critical role in proliferative vitreoretinopathy (PVR). However, the reliable immune-related factors that are acting as prognostic indicators or therapeut...

    Authors: Yao Ni, Fangyuan Liu, Xiao Hu, Yingyan Qin and Zhaotian Zhang

    Citation: BMC Medical Genomics 2021 14:30

    Content type: Research article

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  12. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Zhongzhong Chen, Yunping Lei, Xuanye Cao, Yufang Zheng, Fang Wang, Yihua Bao, Rui Peng, Richard H. Finnell, Ting Zhang and Hongyan Wang

    Citation: BMC Medical Genomics 2021 14:29

    Content type: Correction

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    The original article was published in BMC Medical Genomics 2018 11:38

  13. Genetic factors play an important role in susceptibility to methamphetamine dependency. In this line, protein that interact with C-kinase-1 (PICK1) and brain-derived neurotrophic factor (BDNF) genes are linked to...

    Authors: Amir Tajbakhsh, Maliheh Alimardani, Mahla Asghari, Soheila Abedini, Sohrab Saghafi Khadem, Abolfazl Nesaei Bajestani, Forough Alipoor, Maryam Alidoust, Amir Savardashtaki, Peyman Hashemian and Alireza Pasdar

    Citation: BMC Medical Genomics 2021 14:27

    Content type: Research article

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  14. Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot–Marie–Toot...

    Authors: Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli and Sabrina Giglio

    Citation: BMC Medical Genomics 2021 14:25

    Content type: Case report

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  15. Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, d...

    Authors: Guangxian Yang, Yi Yin, Zhiping Tan, Jian Liu, Xicheng Deng and Yifeng Yang

    Citation: BMC Medical Genomics 2021 14:24

    Content type: Research article

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  16. In biomedical applications, valuable data is often split between owners who cannot openly share the data because of privacy regulations and concerns. Training machine learning models on the joint data without ...

    Authors: Martine De Cock, Rafael Dowsley, Anderson C. A. Nascimento, Davis Railsback, Jianwei Shen and Ariel Todoki

    Citation: BMC Medical Genomics 2021 14:23

    Content type: Technical advance

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  17. Pure red cell aplasia (PRCA) and large granular lymphocytic leukaemia (LGLL) are very rare complications of autoimmune polyendocrine syndrome type 1 (APS1). Here, we report a case of APS1 with PRCA and LGLL. P...

    Authors: Jing Ruan, Xuan Wang, Xianyong Jiang and Miao Chen

    Citation: BMC Medical Genomics 2021 14:22

    Content type: Case report

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  18. Hirschsprung disease (HSCR) is a hereditary defect, which is characterized by the absence of enteric ganglia and is frequently concurrent with Hirschsprung-associated enterocolitis (HAEC). However, the pathoge...

    Authors: Hong Zhang, Jing-Lu Zhao, Yi Zheng, Xiao-Li Xie, Li-Hua Huang, Le Li, Yun Zhu, Li-Feng Lu, Tu-Qun Hu, Wei Zhong and Qiu-Ming He

    Citation: BMC Medical Genomics 2021 14:21

    Content type: Research article

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  19. To make the right treatment decisions about colorectal cancer (CRC) patients reliable predictive and prognostic data are needed. However, in many cases this data is not enough. Some studies suggest that LRIG1 gen...

    Authors: Maryam Bakherad, Mahdieh Salimi, Seyed Abdolhamid Angaji, Frouzandeh Mahjoubi and Tayebeh Majidizadeh

    Citation: BMC Medical Genomics 2021 14:20

    Content type: Research article

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  20. Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology an...

    Authors: Meiying Cai, Na Lin, Xuemei Chen, Meimei Fu, Nan Guo, Liangpu Xu and Hailong Huang

    Citation: BMC Medical Genomics 2021 14:19

    Content type: Research article

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  21. Type 2 diabetes complications cause a serious emotional and economical burden to patients and healthcare systems globally. Management of both acute and chronic complications of diabetes, which dramatically imp...

    Authors: Monta Ustinova, Raitis Peculis, Raimonds Rescenko, Vita Rovite, Linda Zaharenko, Ilze Elbere, Laila Silamikele, Ilze Konrade, Jelizaveta Sokolovska, Valdis Pirags and Janis Klovins

    Citation: BMC Medical Genomics 2021 14:18

    Content type: Research article

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  22. Tandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. It is difficult to predict which tandem repeats may cause a disease. One hypothesis is that chan...

    Authors: Satomi Mitsuhashi, Martin C. Frith and Naomichi Matsumoto

    Citation: BMC Medical Genomics 2021 14:17

    Content type: Research article

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  23. The opioid use disorder and overdose crisis in the United States affects public health as well as social and economic welfare. While several genetic and non-genetic risk factors for opioid use disorder have be...

    Authors: Jessica Heil, Stefan Zajic, Emily Albertson, Andrew Brangan, Iris Jones, Wendy Roberts, Michael Sabia, Elliot Bodofsky, Alissa Resch, Rachel Rafeq, Rachel Haroz, Russell Buono, Thomas N. Ferraro, Laura Scheinfeldt, Matthew Salzman and Kaitlan Baston

    Citation: BMC Medical Genomics 2021 14:16

    Content type: Study protocol

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  24. Internalizing mental disorders (IMDs) (depression, anxiety and post-traumatic stress disorder) have been associated with accelerated telomere length (TL) attrition; however, this association has not been inves...

    Authors: Allan Kalungi, Eugene Kinyanda, Jacqueline S. Womersley, Moses L. Joloba, Wilber Ssembajjwe, Rebecca N. Nsubuga, Pontiano Kaleebu, Jonathan Levin, Martin Kidd, Soraya Seedat and Sian M. J. Hemmings

    Citation: BMC Medical Genomics 2021 14:15

    Content type: Research article

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  25. DNA methylation of Cadherin 13 (CDH13), a tumor suppressor gene is associated with gene repression and carcinogenesis. We determined the relation of dietary fat and sex with CDH13 cg02263260 methylation in Tai...

    Authors: Bei-Hao Shiu, Wen-Yu Lu, Disline Manli Tantoh, Ming-Chih Chou, Oswald Ndi Nfor, Chi-Chou Huang and Yung-Po Liaw

    Citation: BMC Medical Genomics 2021 14:13

    Content type: Research article

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  26. Familial progressive hyper- and hypopigmentation (FPHH, MIM 145250) is a rare hereditary skin disorder that is predominantly characterized by progressive, diffuse, partly blotchy hyperpigmented lesions intermi...

    Authors: Jianbo Wang, Weisheng Li, Naihui Zhou, Jingliu Liu, Shoumin Zhang, Xueli Li, Zhenlu Li, Ziliang Yang, Miao Sun and Min Li

    Citation: BMC Medical Genomics 2021 14:12

    Content type: Research article

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  27. Elevated triglycerides (TG) are associated with, and may be causal for, cardiovascular disease (CVD), and co-morbidities such as type II diabetes and metabolic syndrome. Pathogenic variants in APOA5 and APOC3 as ...

    Authors: Elisabeth A. Rosenthal, David R. Crosslin, Adam S. Gordon, David S. Carrell, Ian B. Stanaway, Eric B. Larson, Jane Grafton, Wei-Qi Wei, Joshua C. Denny, Qi-Ping Feng, Amy S. Shah, Amy C. Sturm, Marylyn D. Ritchie, Jennifer A. Pacheco, Hakon Hakonarson, Laura J. Rasmussen-Torvik…

    Citation: BMC Medical Genomics 2021 14:11

    Content type: Research article

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  28. Genetic testing allows patients and clinicians to understand the risk of hereditary diseases. By testing early, individuals can make informed medical decisions about management which may minimize the risk of d...

    Authors: Chethan Jujjavarapu, Jeevan Anandasakaran, Laura M. Amendola, Cameron Haas, Elizabeth Zampino, Nora B. Henrikson, Gail P. Jarvik and Sean D. Mooney

    Citation: BMC Medical Genomics 2021 14:10

    Content type: Software

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  29. Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large varia...

    Authors: Yahya Benbouchta, Imane Cherkaoui Jaouad, Habiba Tazi, Hamza Elorch, Mouna Ouhenach, Abdelali Zrhidri, Khalid Sadki, Abdelaziz Sefiani, Jaber Lyahyai and Amina Berraho

    Citation: BMC Medical Genomics 2021 14:9

    Content type: Case report

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  30. The abnormal expression of activating transcription factor 3 (ATF3), a member of the basic leucine zipper (bZIP) family of transcription factors, is associated with carcinogenesis. However, the expression patt...

    Authors: Lijuan Li, Shaohua Song, Xiaoling Fang and Donglin Cao

    Citation: BMC Medical Genomics 2021 14:8

    Content type: Research article

    Published on:

  31. This study is to explore the relationship between the ZBRK1/ZNF350 (Zinc finger and BRCA1-interacting protein with KRAB domain-1; also known as zinc-finger protein 350) gene polymorphism and early-onset breast ca...

    Authors: Jun Wu, Alibiati Eni, Eliar Roussuri and Binlin Ma

    Citation: BMC Medical Genomics 2021 14:7

    Content type: Research article

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  32. In addition to ovarian and breast cancers, loss-of-function mutations in BRCA1 and BRCA2 genes are also linked to an increased risk of pancreatic cancer, with ~ 4 to 7% of pancreatic cancer patients harboring ger...

    Authors: Deqiang Wang, Ruting Guan, Qing Tao, Sisi Liu, Man Yu and Xiaoqin Li

    Citation: BMC Medical Genomics 2021 14:6

    Content type: Case report

    Published on:

  33. Preeclampsia (PE) is a pregnancy-related condition that affects both the infant and the mother. Although the role of various inflammatory molecules in PE has been demonstrated, the importance of pro-inflammato...

    Authors: Xiao Lang, Wei Liu, Yanyan Hou, Wenxia Zhao, Xingyu Yang, Lan Chen, Qi Yan and Weiwei Cheng

    Citation: BMC Medical Genomics 2021 14:5

    Content type: Research article

    Published on:

  34. Congenital heart disease (CHD) is resulted from the interaction of genetic aberration and environmental factors. Imprinted genes, which are regulated by epigenetic modifications, are essential for the normal e...

    Authors: Shaoyan Chang, Yubo Wang, Yu Xin, Shuangxing Wang, Yi Luo, Li Wang, Hui Zhang and Jia Li

    Citation: BMC Medical Genomics 2021 14:4

    Content type: Research article

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  35. In order to explore the pathophysiology underlying type 2 diabetes we examined the impact of gene variants associated with type 2 diabetes on circulating levels of glucagon during an oral glucose tolerance tes...

    Authors: Anna Jonsson, Sara E. Stinson, Signe S. Torekov, Tine D. Clausen, Kristine Færch, Louise Kelstrup, Niels Grarup, Elisabeth R. Mathiesen, Peter Damm, Daniel R. Witte, Marit E. Jørgensen, Oluf Pedersen, Jens Juul Holst and Torben Hansen

    Citation: BMC Medical Genomics 2021 14:3

    Content type: Research article

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  36. Hearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown.

    Authors: Ashfaque Ahmed, Meng Wang, Rizwan Khan, Abid Ali Shah, Hui Guo, Sajid Malik, Kun Xia and Zhengmao Hu

    Citation: BMC Medical Genomics 2021 14:2

    Content type: Research article

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  37. Variants in CDKN2B/CDKN2B-AS1 have been reported to modulate glaucoma risk in several GWAS across different populations. CDKN2B/CDKN2A encodes tumor suppressor proteins p16INK4A/p15INK4B which influences cell pro...

    Authors: Nanamika Thakur, Manu Kupani, Rashim Mannan, Archna Pruthi and Sanjana Mehrotra

    Citation: BMC Medical Genomics 2021 14:1

    Content type: Research article

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  38. Existing studies have demonstrated that the integrative analysis of histopathological images and genomic data can be used to better understand the onset and progression of many diseases, as well as identify ne...

    Authors: Siwen Xu, Zixiao Lu, Wei Shao, Christina Y. Yu, Jill L. Reiter, Qianjin Feng, Weixing Feng, Kun Huang and Yunlong Liu

    Citation: BMC Medical Genomics 2020 13(Suppl 11):195

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 11

  39. Serum alpha-fetoprotein (AFP) is the approved serum marker for hepatocellular carcinoma (HCC) screening. However, not all HCC patients show high (≥ 20 ng/mL) serum AFP, and the molecular mechanisms of HCCs wit...

    Authors: Young-Joo Jin, Habtamu Minassie Aycheh, Seonggyun Han, John Chamberlin, Jaehang Shin, Seyoun Byun and Younghee Lee

    Citation: BMC Medical Genomics 2020 13(Suppl 11):194

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 11

  40. Drug sensitivity prediction and drug responsive biomarker selection on high-throughput genomic data is a critical step in drug discovery. Many computational methods have been developed to serve this purpose in...

    Authors: Khandakar Tanvir Ahmed, Sunho Park, Qibing Jiang, Yunku Yeu, TaeHyun Hwang and Wei Zhang

    Citation: BMC Medical Genomics 2020 13(Suppl 11):193

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 11

  41. Psychiatric disorders such as schizophrenia (SCZ), bipolar disorder (BIP), major depressive disorder (MDD), attention deficit-hyperactivity disorder (ADHD), and autism spectrum disorder (ASD) are often related...

    Authors: Yulin Dai, Timothy D. O’Brien, Guangsheng Pei, Zhongming Zhao and Peilin Jia

    Citation: BMC Medical Genomics 2020 13(Suppl 11):192

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 11

  42. Understanding gene regulation is important but difficult. Elucidating tissue-specific gene regulation mechanism is even more challenging and requires gene co-expression network assembled from protein–protein i...

    Authors: Binze Li, Julian Dong, Jiaqi Yu, Yuqi Fan, Lulu Shang, Xiang Zhou and Yongsheng Bai

    Citation: BMC Medical Genomics 2020 13(Suppl 11):191

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 11

  43. Renal cell carcinoma (RCC) is a complex disease and is comprised of several histological subtypes, the most frequent of which are clear cell renal cell carcinoma (ccRCC), papillary renal cell carcinoma (PRCC) ...

    Authors: Xiaohui Zhan, Yusong Liu, Christina Y. Yu, Tian-Fu Wang, Jie Zhang, Dong Ni and Kun Huang

    Citation: BMC Medical Genomics 2020 13(Suppl 11):190

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 11

  44. This editorial summarizes eight research articles included in this supplement issue for the 2020 International Conference on Intelligent Biology and Medicine (ICIBM 2020) conference, that was held on August 9-...

    Authors: Xinghua Shi, Zhongming Zhao, Kai Wang and Li Shen

    Citation: BMC Medical Genomics 2020 13(Suppl 11):189

    Content type: Introduction

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 11

Annual Journal Metrics

Announcement

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.