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  1. 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 Published on:

  3. 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 Published on:

  4. 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 Published on:

  5. 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 Published on:

  6. 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 Published on:

  7. 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 Published on:

  8. 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:

  9. 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:

  10. 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:

  11. 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 Published on:

  12. 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 Published on:

  13. 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 Published on:

  14. 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 Published on:

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders includin...

    Authors: Chun Pan, Xiaowei Zhou, Anlan Hong, Fang Fang and Yan Wang
    Citation: BMC Medical Genomics 2020 13:188
    Content type: Case report Published on:

  25. Lung adenocarcinoma (LADC) is a major subtype of non-small cell lung cancer and has one of the highest mortality rates. An increasing number of long non-coding RNAs (LncRNAs) were reported to be associated wit...

    Authors: Wenyuan Zhao, Jun Wang, Qingxi Luo, Wei Peng, Bin Li, Lei Wang, Chunfang Zhang and Chaojun Duan
    Citation: BMC Medical Genomics 2020 13:185
    Content type: Research article Published on:

  26. We aimed to examine the role of the rs6060566 polymorphism of the reactive oxygen species modulator 1 (ROMO1) gene in the development of myocardial infarction (MI) in Caucasians with type 2 diabetes (T2DM).

    Authors: Miha Tibaut, Sara Mankoč Ramuš and Daniel Petrovič
    Citation: BMC Medical Genomics 2020 13:184
    Content type: Research article Published on:

  28. Mutations in CNKSR2 have been described in patients with neurodevelopmental disorders characterized by childhood epilepsy, language deficits, and attention problems. The encoded protein plays an important role in...

    Authors: Yi Zhang, Tingting Yu, Niu Li, Jiwen Wang, Jian Wang, Yihua Ge and Ruen Yao
    Citation: BMC Medical Genomics 2020 13:182
    Content type: Case report Published on:

  29. 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:

  30. 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:

  31. 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 Published on:

  32. 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 Published on:

  33. 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 Published on:

  35. 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:

  36. 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:

  37. 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 Published on:

  38. 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 Published on:

  39. 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 Published on:

  41. ‘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 Published on:

  42. 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 Published on:

  43. 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 Published on:

  44. 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 Published on:

  45. 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 Published on:

  46. 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 Published on:

  47. 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:

  48. 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 Published on:

  49. 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 Published on:

  50. 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 Published on:
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BMC Medical Genomics

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