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Prognostics and diagnostics/biomarkers

This section considers studies on the use of genomic markers to diagnose, classify, or predict the risk or prognosis of human disease or genetic disorders as well as the analysis of the structure and function of genes and chromosomes and the role of genetic mutations and cytogenetic changes in human genetic disorders.

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  2. Both Genome-wide associations and our previous study have shown that single nucleotide polymorphisms (SNPs) of M-type phospholipase A2 receptor (PLA2R) and human leukocyte antigen complex class II HLA-DQα-chain 1...

    Authors: Shulei Fan, Qiuxia Wang, Amanda Y. Wang, Ping Zhang, Xiang Zhong, Shasha Chen, Guisen Li, Li Wang and Wei Wang

    Citation: BMC Medical Genomics 2021 14:123

    Content type: Research article

    Published on:

  4. Cryptococcal meningitis (CM) is a major cause of death in HIV-infected patients in sub-Saharan Africa. Many CM patients experience cryptococcosis-associated immune reconstitution inflammatory syndrome (C-IRIS)...

    Authors: Irina Vlasova-St Louis, Abdu K. Musubire, David B. Meya, Henry W. Nabeta, Hesham Mohei, David R. Boulware and Paul R. Bohjanen

    Citation: BMC Medical Genomics 2021 14:108

    Content type: Research article

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  5. Due to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as...

    Authors: Yan Sun, Fengxia Liu, Chunna Fan, Yaoshen Wang, Lijie Song, Zhonghai Fang, Rui Han, Zhonghua Wang, Xiaodan Wang, Ziying Yang, Zhenpeng Xu, Jiguang Peng, Chaonan Shi, Hongyun Zhang, Wei Dong, Hui Huang…

    Citation: BMC Medical Genomics 2021 14:102

    Content type: Research article

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  6. ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far.

    Authors: Danping Huang, Min Liu, Hongying Wang, Bingbing Zhang, Dongjing Zhao, Weihao Ling, Manli Wang, Jun Feng, Yiping Shen and Xuqin Chen

    Citation: BMC Medical Genomics 2021 14:95

    Content type: Case report

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  7. This paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, and 13 (T21, T18, and T13) and ...

    Authors: Marco La Verde, Luigia De Falco, Annalaura Torella, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Anna Conte, Vera Fico, Marco Torella and Antonio Fico

    Citation: BMC Medical Genomics 2021 14:93

    Content type: Research article

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  8. Hereditary retinopathy is a significant cause of blindness worldwide. Despite the discovery of many mutations in various retinopathies, a large number of patients remain genetically undiagnosed. Targeted next-...

    Authors: Zhouxian Bai, Yanchuan Xie, Lina Liu, Jingzhi Shao, Yuying Liu and Xiangdong Kong

    Citation: BMC Medical Genomics 2021 14:92

    Content type: Research article

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  9. Cerebro-oculo-facio-skeletal syndrome (COFS) is a severe and progressive neurologic condition characterized by prenatal onset of arthrogryposis, cataract, microcephaly and growth failure. The aim of this study...

    Authors: Fabio Sirchia, Ilaria Fantasia, Agnese Feresin, Elisa Giorgio, Flavio Faletra, Denise Mordeglia, Moira Barbieri, Valentina Guida, Alessandro De Luca and Tamara Stampalija

    Citation: BMC Medical Genomics 2021 14:89

    Content type: Case report

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  11. Long noncoding RNAs (lncRNAs) are closely associated with the development of hepatocellular carcinoma (HCC). The present study conducted a genome-wide microarray analysis and qPCR validation to obtain comprehe...

    Authors: Zan-Xi Fang, Jian-Jun Niu, Ping-Guo Liu and Yong Lin

    Citation: BMC Medical Genomics 2021 14:85

    Content type: Research article

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  12. Recent studies have identified susceptibility genes of HBV clearance, chronic hepatitis B, liver cirrhosis, hepatocellular carcinoma, and showed the host genetic factors play an important role in these HBV-rel...

    Authors: Zheng Zeng, Hankui Liu, Huifang Xu, Haiying Lu, Yanyan Yu, Xiaoyuan Xu, Min Yu, Tao Zhang, Xiulan Tian, Hongli Xi, Liping Guan, Jianguo Zhang and Stephen J. O’Brien

    Citation: BMC Medical Genomics 2021 14:84

    Content type: Research article

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  14. Cryptic balanced translocations often evade detection by conventional cytogenetics. The preimplantation genetic testing (PGT) technique can be used to help carriers of balanced translocations give birth to hea...

    Authors: Xiliang Wang, Changsheng Wu, Dongmei Hao, Jinyan Zhang, Chang Tan, De-hua Cheng, Jia Fei and Yuexin Yu

    Citation: BMC Medical Genomics 2021 14:82

    Content type: Case report

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  16. 16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare am...

    Authors: Monika Szelest, Martyna Stefaniak, Gabriela Ręka, Ilona Jaszczuk and Monika Lejman

    Citation: BMC Medical Genomics 2021 14:76

    Content type: Case report

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  17. As a complex system participating in tumor development and progression, the tumor microenvironment was poorly understood in esophageal cancer especially squamous cell carcinoma (ESCC).

    Authors: Mingdi Liu, Faping Li, Bin Liu, Yongping Jian, Dan Zhang, Honglan Zhou, Yishu Wang and Zhixiang Xu

    Citation: BMC Medical Genomics 2021 14:75

    Content type: Research article

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  18. To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profi...

    Authors: Dae Joong Ma, Hyun-Seob Lee, Kwangsoo Kim, Seongmin Choi, Insoon Jang, Seo-Ho Cho, Chang Ki Yoon, Eun Kyoung Lee and Hyeong Gon Yu

    Citation: BMC Medical Genomics 2021 14:74

    Content type: Research article

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  19. Kidney renal clear cell carcinoma (KIRC) is the most common type of kidney cell carcinoma which has the worst overall survival rate. Almost 30% of patients with localized cancers eventually develop to metastas...

    Authors: Minjiang Huang, Ti Zhang, Zhi-Yong Yao, Chaoqung Xing, Qingyi Wu, Yuan-Wu Liu and Xiao-Liang Xing

    Citation: BMC Medical Genomics 2021 14:72

    Content type: Research article

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  20. This article presents the results of long-term observations and comparative analysis of genotype–phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild ...

    Authors: Alla Nikolaevna Semyachkina, Elena Yurievna Voskoboeva, Ekaterina Alexandrovna Nikolaeva and Ekaterina Yurievna Zakharova

    Citation: BMC Medical Genomics 2021 14:71

    Content type: Research article

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  21. The diagnosis of systemic lupus erythematosus (SLE) is complicated. This study explores the expression of circular RNAs (circRNAs), which are closed non-coding RNAs in which the 5′ and 3′ ends are covalently l...

    Authors: Fengping Zheng, Xiangqi Yu, Donge Tang, Xiaoping Hong, Xinzhou Zhang, Dongzhou Liu and Yong Dai

    Citation: BMC Medical Genomics 2021 14:70

    Content type: Research article

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  22. The pathogenesis of germinal center B-cell type diffuse large B-cell lymphoma (GCB-DLBCL) is not fully elucidated. This study aims to explore the regulation of super enhancers (SEs) on GCB-DLBCL by identifying...

    Authors: Xi Li, Yan Duan and Yuxia Hao

    Citation: BMC Medical Genomics 2021 14:69

    Content type: Research article

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  23. KBG syndrome is a rare autosomal dominant genetic disease mainly caused by pathogenic variants of ankyrin repeat domain-containing protein 11 (ANKRD11) or deletions involving ANKRD11. Herein, we report a novel de...

    Authors: Jing Chen, Zhongmin Xia, Yulin Zhou, Xiaomin Ma, Xudong Wang and Qiwei Guo

    Citation: BMC Medical Genomics 2021 14:68

    Content type: Case report

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  25. Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendment...

    Authors: Adelyn Beil, Whitney Hornsby, Wendy R. Uhlmann, Rajani Aatre, Patricia Arscott, Brooke Wolford, Kim A. Eagle, Bo Yang, Jennifer McNamara, Cristen Willer and J. Scott Roberts

    Citation: BMC Medical Genomics 2021 14:66

    Content type: Research article

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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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

    Published on:

  33. 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

    Published on:

  34. 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

    Published on:

  35. 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

    Published on:

  36. 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

    Published on:

  37. 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

    Published on:

  38. 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

    Published on:

  39. 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

    Published on:

  41. 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

    Published on:

  42. 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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  43. 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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  44. 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

    Published on:

  45. 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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  46. 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

    Published on:

  48. 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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  49. 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:

  50. 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:

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