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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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

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  18. 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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  19. 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

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  20. 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

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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

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

  32. 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:

  35. 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

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  36. 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:

  38. 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:

  39. 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:

  40. 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:

  41. 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:

  42. 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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  43. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  50. ‘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:

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