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  1. Clinical genomics represents a paradigm shifting change to health service delivery and practice across many conditions and life-stages. Introducing this complex technology into an already complex health system...

    Authors: Janet C. Long, Hossai Gul, Elise McPherson, Stephanie Best, Hanna Augustsson, Kate Churruca, Louise A. Ellis and Jeffrey Braithwaite

    Citation: BMC Medical Genomics 2021 14:63

    Content type: Research article

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  2. Gene fusions represent promising targets for cancer therapy in lung cancer. Reliable detection of multiple gene fusions is therefore essential.

    Authors: Carina Heydt, Christina B. Wölwer, Oscar Velazquez Camacho, Svenja Wagener-Ryczek, Roberto Pappesch, Janna Siemanowski, Jan Rehker, Florian Haller, Abbas Agaimy, Karl Worm, Thomas Herold, Nicole Pfarr, Wilko Weichert, Thomas Kirchner, Andreas Jung, Jörg Kumbrink…

    Citation: BMC Medical Genomics 2021 14:62

    Content type: Research article

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  4. Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy...

    Authors: Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy and Muriel Holder-Espinasse

    Citation: BMC Medical Genomics 2021 14:58

    Content type: Case report

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  5. A substantial number of infants infected with RSV develop severe symptoms requiring hospitalization. We currently lack accurate biomarkers that are associated with severe illness.

    Authors: Lu Wang, Chin-Yi Chu, Matthew N. McCall, Christopher Slaunwhite, Jeanne Holden-Wiltse, Anthony Corbett, Ann R. Falsey, David J. Topham, Mary T. Caserta, Thomas J. Mariani, Edward E. Walsh and Xing Qiu

    Citation: BMC Medical Genomics 2021 14:57

    Content type: Research article

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  6. Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a ...

    Authors: Na Ma, Hui Xi, Jing Chen, Ying Peng, Zhengjun Jia, Shuting Yang, Jiancheng Hu, Jialun Pang, Yanan Zhang, Rong Hu, Hua Wang and Jing Liu

    Citation: BMC Medical Genomics 2021 14:56

    Content type: Research article

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  7. Major depressive disorder (MDD) is a leading psychiatric disorder that involves complex abnormal biological functions and neural networks. This study aimed to compare the changes in the network connectivity of...

    Authors: Ruijie Geng and Xiao Huang

    Citation: BMC Medical Genomics 2021 14:55

    Content type: Research article

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  8. In the clinical setting, workflows for analyzing individual genomics data should be both comprehensive and convenient for clinical interpretation. In an effort for comprehensiveness and practicality, we attemp...

    Authors: Ege Ülgen, Özge Can, Kaya Bilguvar, Cemaliye Akyerli Boylu, Şirin Kılıçturgay Yüksel, Ayça Erşen Danyeli, O. Uğur Sezerman, M. Cengiz Yakıcıer, M. Necmettin Pamir and Koray Özduman

    Citation: BMC Medical Genomics 2021 14:54

    Content type: Research article

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  9. Cleft lip with or without cleft palate (CL/P) is the most common craniofacial anomaly with a high incidence of live births. The specific pathogenesis of CL/P is still unclear, although plenty of studies have b...

    Authors: Tianhui Xu, Mengmeng Du, Xinhua Bu, Donglan Yuan, Zhiping Gu, Pei Yu, Xuefang Li, Jiao Chen and Chunyan Jin

    Citation: BMC Medical Genomics 2021 14:53

    Content type: Case report

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  12. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive hyper-inflammatory syndrome which needs early accurate diagnosis and appropriate treatment to prevent compli...

    Authors: V. Thadchanamoorthy, M. T. R. Jayatunga, Kavinda Dayasiri, E. Jasinge, M. L. M. Jinnah, C. Pereira, V. Skrahina and Markandu Thirukumar

    Citation: BMC Medical Genomics 2021 14:50

    Content type: Case report

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  14. Huntington's disease (HD) is one of the most common polyglutamine disorders, leading to progressive dyskinesia, cognitive impairment, and neuropsychological problems. Besides the dysregulation of many protein-...

    Authors: Xiaoping Tan, Yang Liu, Taiming Zhang and Shuyan Cong

    Citation: BMC Medical Genomics 2021 14:48

    Content type: Research article

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  15. Mosaic mutations contribute to numerous human disorders. As such, the identification and precise quantification of mosaic mutations is essential for a wide range of research applications, clinical diagnoses, a...

    Authors: Ryan N. Doan, Michael B. Miller, Sonia N. Kim, Rachel E. Rodin, Javier Ganz, Sara Bizzotto, Katherine S. Morillo, August Yue Huang, Reethika Digumarthy, Zachary Zemmel and Christopher A. Walsh

    Citation: BMC Medical Genomics 2021 14:47

    Content type: Technical advance

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  16. Graves’ disease(GD) has a tendency for familial aggregation, but it is uncommon to occur in more than two generations. However, little is known about susceptibility genes for GD in the three-generation family.

    Authors: Zhuoqing Hu, Wei Li, Miaosheng Li, Hao Wei, Zhihui Hu, Yanting Chen, Ai Luo and Wangen Li

    Citation: BMC Medical Genomics 2021 14:46

    Content type: Research article

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  17. Coronary artery calcification (CAC) is a noninvasive measure of coronary atherosclerosis, the proximal pathophysiology underlying most cases of myocardial infarction (MI). We sought to identify expression sign...

    Authors: Xiaoling Zhang, Jeroen G. J. van Rooij, Yoshiyuki Wakabayashi, Shih-Jen Hwang, Yanqin Yang, Mohsen Ghanbari, Daniel Bos, Daniel Levy, Andrew D. Johnson, Joyce B. J. van Meurs, Maryam Kavousi, Jun Zhu and Christopher J. O’Donnell

    Citation: BMC Medical Genomics 2021 14:45

    Content type: Research article

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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  25. 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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  26. 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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  28. 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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  29. 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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  31. 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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  32. 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

  34. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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  48. 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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  49. 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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  50. 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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