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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. Polygenic scores—which quantify inherited risk by integrating information from many common sites of DNA variation—may enable a tailored approach to clinical medicine. However, alongside considerable enthusiasm...

    Authors: Deanna G. Brockman, Lia Petronio, Jacqueline S. Dron, Bum Chul Kwon, Trish Vosburg, Lisa Nip, Andrew Tang, Mary O’Reilly, Niall Lennon, Bang Wong, Kenney Ng, Katherine H. Huang, Akl C. Fahed and Amit V. Khera

    Citation: BMC Medical Genomics 2021 14:238

    Content type: Research article

    Published on:

  2. Microsatellite instability (MSI) is a biomarker for better outcomes in colorectal cancer (CRC). However, this conclusion is controversial. In addition, MSs can be a useful marker for loss of heterozygosity (LO...

    Authors: Xueyun Huo, Dandan Feng, Shuangyue Zhang, Zhenkun Li, Xiaohong Li, Changlong Li, Meng Guo, Jin Wang, Zhongtao Zhang, Qingxian Lu, Xiaoyan Du, Zhigang Bai and Zhenwen Chen

    Citation: BMC Medical Genomics 2021 14:235

    Content type: Research article

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  3. It is estimated that 1–13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD...

    Authors: Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker and Jane S. Lucas

    Citation: BMC Medical Genomics 2021 14:234

    Content type: Research article

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  4. Although the effects of macrophages and CD8 T cell infiltration on clinical outcome have been widely reported, the association between immunity-associated gene with them for hepatocellular carcinoma (HCC) rema...

    Authors: Junyu Huo, Liqun Wu and Yunjin Zang

    Citation: BMC Medical Genomics 2021 14:232

    Content type: Research article

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  5. Microspherophakia (MSP, OMIM 251,750) is a rare inherited autosomal recessive eye disorder characterized by small spherically shaped lens. Several studies have indicated that the transforming growth factor-bet...

    Authors: Manhua Xu, Kaiming Li and Weimin He

    Citation: BMC Medical Genomics 2021 14:227

    Content type: Case report

    Published on:

  7. Adenosquamous carcinoma of the prostate (ASCP) is an extremely rare and aggressive prostate cancer variant, whose genomic characteristics have not been elucidated. Although liquid biopsy of circulating tumor c...

    Authors: Junji Kitamura, Satoru Taguchi, Takatsugu Okegawa, Kazuki Honda, Toshihiko Kii, Yoshihiro Tomida, Ryuki Matsumoto, Naoki Ninomiya, Kazuki Masuda, Yu Nakamura, Tsuyoshi Yamaguchi, Manami Kinjo, Mitsuhiro Tambo, Aya Isomura, Akimasa Hayashi, Hiroshi Kamma…

    Citation: BMC Medical Genomics 2021 14:217

    Content type: Case report

    Published on:

  8. Chordoma is a rare bone tumor that is typically resistant to chemotherapy and is associated with genetic abnormalities of the T-box transcription factor T (TBXT) gene, which encodes the transcription factor brach...

    Authors: Nuttavut Sumransub, Paari Murugan, Shelly Marette, Denis R. Clohisy and Keith M. Skubitz

    Citation: BMC Medical Genomics 2021 14:213

    Content type: Case report

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  9. Angiogenesis is a complex and coordinated process regulated by different growth factors and is one of the hallmark features of cancer. VEGF is one of the most important endothelial cell mitogen and has a criti...

    Authors: Vasudha Sambyal, Kamlesh Guleria, Ruhi Kapahi, Mridu Manjari, Meena Sudan, Manjit Singh Uppal and Neeti Rajan Singh

    Citation: BMC Medical Genomics 2021 14:209

    Content type: Research article

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  10. Pathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorp...

    Authors: Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang and Ruen Yao

    Citation: BMC Medical Genomics 2021 14:207

    Content type: Case report

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  11. Schwannomas are neoplasms that typically arise from the myelin sheath of peripheral nerves and rarely originate within the brain parenchyma. Some case reports present schwannomas arising from the brainstem, bu...

    Authors: Daiichiro Ishigami, Satoru Miyawaki, Hirofumi Nakatomi, Shunsaku Takayanagi, Yu Teranishi, Kenta Ohara, Hiroki Hongo, Shogo Dofuku, Taichi Kin, Hiroyuki Abe, Jun Mitsui, Daisuke Komura, Hiroto Katoh, Shumpei Ishikawa and Nobuhito Saito

    Citation: BMC Medical Genomics 2021 14:205

    Content type: Case report

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  12. Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants are frameshift or nonsense variants which are predict...

    Authors: Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang and Joungsu Joo

    Citation: BMC Medical Genomics 2021 14:204

    Content type: Case report

    Published on:

    The Correction to this article has been published in BMC Medical Genomics 2021 14:231

  13. Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly ...

    Authors: Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang and Xiumin Wang

    Citation: BMC Medical Genomics 2021 14:201

    Content type: Case report

    Published on:

  14. Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a n...

    Authors: Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Shanling Liu and Jing Wang

    Citation: BMC Medical Genomics 2021 14:200

    Content type: Case report

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  16. GLUT1 Deficiency Syndrome 1 (GLUT1DS1) is a neurological disorder caused by either heterozygous or homozygous mutations in the Solute Carrier Family 2, Member 1 (SLC2A1) gene. SLC2A1 encodes Glucose transporter t...

    Authors: Tugce Bozkurt, Yasemin Alanay, Ugur Isik and Ugur Sezerman

    Citation: BMC Medical Genomics 2021 14:197

    Content type: Case report

    Published on:

  17. Adenylate kinase (AK) deficiency is a rare red cell enzymopathy associated with moderate to severe congenital nonspherocytic hemolytic anemia, along with mental and psychomotor retardation (in exceptional case...

    Authors: Rashmi Dongerdiye, Abhilasha Sampagar, Rati Devendra, Prashant Warang and Prabhakar Kedar

    Citation: BMC Medical Genomics 2021 14:191

    Content type: Research article

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  18. Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by uniform shortening of the middle phalanges in all digits. It is associated with variants in the Indian Hedgehog (IHH) gene, which pl...

    Authors: Nozomu Ozaki, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Sumiko Inoue, Shohab Youssefian and Akio Koizumi

    Citation: BMC Medical Genomics 2021 14:190

    Content type: Research article

    Published on:

  19. 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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  20. 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

    Published on:

  23. 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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  24. 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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  25. 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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  26. 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

    Published on:

  27. 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

    Published on:

  28. 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

    Published on:

  29. 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

    Published on:

  30. 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

    Published on:

  32. 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

    Published on:

  33. 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

    Published on:

  34. 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

    Published on:

  35. 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

    Published on:

  36. 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

    Published on:

  37. 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

    Published on:

  38. 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

    Published on:

  40. 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

    Published on:

  41. 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

    Published on:

  42. 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

    Published on:

  44. 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

  46. 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

    Published on:

  47. 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

    Published on:

  48. 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:

  49. 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

    Published on:

  50. 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

    Published on:

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As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.