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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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  1. Basal cell carcinoma (BCC) represents by far the most common non-melanoma skin cancer (NMSC) in the world with an increasing incidence of 3% to 10% per year, especially in patients under the age of 40. While v...

    Authors: Marc Abi Karam, Hampig Raphael Kourie, Nadine Jalkh, Cybel Mehawej, Carole Kesrouani, Fady Gh Haddad, Iman Feghaly, Eliane Chouery and Roland Tomb

    Citation: BMC Medical Genomics 2021 14:187

    Content type: Research article

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  2. Pathogenic variants in connector enhancer of kinase suppressor of Ras-2 (CNKSR2) located on the X chromosome (Xp22.12) lead to a disorder characterized by developmental delay and a characteristic seizure phenotyp...

    Authors: Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster and Joseph J. Shen

    Citation: BMC Medical Genomics 2021 14:186

    Content type: Case report

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  5. Breast cancer (BC) is the most invasive cancer with different subtypes that its metabolism is unique compared with normal cells. Glutamine is considered critical nutrition that many cancer cells, particularly ...

    Authors: Soheila Delgir, Khandan Ilkhani, Asma Safi, Yazdan Rahmati, Vahid Montazari, Zahra Zaynali-Khasraghi, Farhad Seif, Milad Bastami and Mohammad Reza Alivand

    Citation: BMC Medical Genomics 2021 14:180

    Content type: Research article

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  6. Many studies have proposed that the pathogenesis of obesity has a genetic basis, with an important risk factor being the presence of polymorphisms in the region of the TMEM18 gene, which plays a significant role ...

    Authors: Natalia Koj, Łukasz Grochowalski, Justyna Jarczak, Weronika Wójtowicz, Marta Sobalska-Kwapis, Marcin Słomka, Błażej Marciniak and Dominik Strapagiel

    Citation: BMC Medical Genomics 2021 14:179

    Content type: Research article

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  7. This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care.

    Authors: Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho and Beom Hee Lee

    Citation: BMC Medical Genomics 2021 14:177

    Content type: Research article

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  8. Chronic lymphocytic leukemia (CLL) is an indolent heme malignancy characterized by the accumulation of CD5+ CD19+ B cells and episodes of relapse. The biological signaling that influence episodes of relapse in CL...

    Authors: Ti’ara L. Griffen, Eric B. Dammer, Courtney D. Dill, Kaylin M. Carey, Corey D. Young, Sha’Kayla K. Nunez, Adaugo Q. Ohandjo, Steven M. Kornblau and James W. Lillard Jr.

    Citation: BMC Medical Genomics 2021 14:171

    Content type: Research article

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  9. Evidence from genetic epidemiology indicates that type 2 diabetes (T2D) has a strong genetic basis. Activated STAT4 has an inflammatory effect, and STAT4 is an important mediator of inflammation in diabetes. Our ...

    Authors: Jiaqi Cui, Rui Tong, Jing Xu, Yanni Tian, Juan Pan, Ning Wang, Huan Chen, Yanqi Peng, Sijia Fei, Wang Ling, Chaoying Guo, Juanchuan Yao and Wei Cui

    Citation: BMC Medical Genomics 2021 14:169

    Content type: Research article

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  10. Repeat elements constitute a large proportion of the human genome and recent evidence indicates that repeat element expression has functional roles in both physiological and pathological states. Specifically f...

    Authors: M. Onishi-Seebacher, G. Erikson, Z. Sawitzki, D. Ryan, G. Greve, M. Lübbert and T. Jenuwein

    Citation: BMC Medical Genomics 2021 14:166

    Content type: Research article

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  11. Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidenc...

    Authors: Chunyan Jin, Zhiping Gu, Xiaohan Jiang, Pei Yu and Tianhui Xu

    Citation: BMC Medical Genomics 2021 14:164

    Content type: Case report

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  12. Karyomegalic interstitial nephritis (KIN) is a rare disease entity first described by Burry in 1974. The term KIN was introduced by Mihatsch et al. in 1979. KIN is characterized by chronic tubulointerstitial n...

    Authors: Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa and Rim Goucha

    Citation: BMC Medical Genomics 2021 14:160

    Content type: Research article

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  14. Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy associated with variants in the MTMR5/SBF1 gene. MTMR5/SBF1 is a pseudophosphatase predicted to regulate endo-lysosomal tra...

    Authors: Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli and Vittoria Petruzzella

    Citation: BMC Medical Genomics 2021 14:157

    Content type: Case report

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  15. Oligonucleotide array comparative genomic hybridization (aCGH) analysis has been used for detecting somatic copy number alterations (CNAs) in various types of tumors. This study aimed to assess the clinical ut...

    Authors: Gang Peng, Hongyan Chai, Weizhen Ji, Yufei Lu, Shengming Wu, Hongyu Zhao, Peining Li and Qiping Hu

    Citation: BMC Medical Genomics 2021 14:150

    Content type: Research article

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  16. Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments ...

    Authors: Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah and Melita Irving

    Citation: BMC Medical Genomics 2021 14:148

    Content type: Research article

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  17. Atherosclerosis is a chronic inflammatory disease that affects multiple arteries. Numerous studies have shown the inherent immune diversity in atheromatous plaques and suggest that the dysfunction of different...

    Authors: Yang Shen, Li-rong Xu, Xiao Tang, Chang-po Lin, Dong Yan, Song Xue, Rui-zhe Qian and Da-qiao Guo

    Citation: BMC Medical Genomics 2021 14:145

    Content type: Research article

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  18. Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with ery...

    Authors: Ruben D. Arias-Pérez, Salomón Gallego-Quintero, Natalia A. Taborda, Jorge E. Restrepo, Renato Zambrano-Cruz, William Tamayo-Agudelo, Patricia Bermúdez, Constanza Duque, Ismael Arroyave, Johanna A. Tejada-Moreno, Andrés Villegas-Lanau, Alejandro Mejía-García, Wildeman Zapata, Juan C. Hernandez and Gina Cuartas-Montoya

    Citation: BMC Medical Genomics 2021 14:140

    Content type: Case report

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  19. We report a patient with Essential Thrombocythemia (ET), subsequently diagnosed with concurrent myeloid and lymphoid leukemia. Generally, the molecular mechanisms underlying leukemic transformation of Philadel...

    Authors: Yujie Chen, Rafee Talukder, Brian Y. Merritt, Katherine Y. King, Marek Kimmel, Gustavo Rivero and Romina Sosa

    Citation: BMC Medical Genomics 2021 14:137

    Content type: Case report

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  20. Degenerative lumbar spinal stenosis (DLSS) is a common lumbar disease that requires surgery. Previous studies have indicated that genetic mutations are implicated in DLSS. However, studies on specific gene mut...

    Authors: Xin Jiang and Dong Chen

    Citation: BMC Medical Genomics 2021 14:134

    Content type: Research article

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  22. The nucleoporin 98 (NUP98)-paired related homeobox 1 (PMX1) fusion gene, which results from t(1;11)(q23;p15), is rare in patients with acute myeloid leukemia (AML). Currently, only two cases of chronic myeloid le...

    Authors: Weijia Fu, Aijie Huang, Hui Cheng, Yanrong Luo, Lei Gao, Gusheng Tang, Jianmin Yang, Jianmin Wang and Xiong Ni

    Citation: BMC Medical Genomics 2021 14:130

    Content type: Case report

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  23. This study aimed to determine and verify the prognostic value and potential functional mechanism of signal recognition particle 14 (SRP14) in acute myeloid leukemia (AML) using a genome-wide expression profile...

    Authors: Lingling Shi, Rui Huang and Yongrong Lai

    Citation: BMC Medical Genomics 2021 14:127

    Content type: Research article

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  24. Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing’s syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of year...

    Authors: Wen-Tao He, Xiong Wang, Wen Song, Xiao-Dong Song, Yan-Jun Lu, Yan-Kai Lv, Ting He, Xue-Feng Yu and Shu-Hong Hu

    Citation: BMC Medical Genomics 2021 14:126

    Content type: Case report

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  26. 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:

    The Correction to this article has been published in BMC Medical Genomics 2021 14:143

  28. 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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  29. 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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  30. 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

    Published on:

  31. 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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  32. 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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  33. 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

    Published on:

  35. 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

    Published on:

  36. 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

    Published on:

  38. 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

    Published on:

  40. 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

    Published on:

  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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

    Published on:

  47. 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

    Published on:

  49. 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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  50. 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

    Published on:

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BMC Medical Genomics

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