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  1. Liquid-based cytology (LBC) is now a widely used method for cytologic screening and cancer diagnosis. Since the cells are fixed with alcohol-based fixatives, and the specimens are stored in a liquid condition,...

    Authors: Toshiaki Akahane, Ikumi Kitazono, Shintaro Yanazume, Masaki Kamio, Shinichi Togami, Ippei Sakamoto, Sachio Nohara, Seiya Yokoyama, Hiroaki Kobayashi, Tsubasa Hiraki, Shinsuke Suzuki, Shinichi Ueno and Akihide Tanimoto

    Citation: BMC Medical Genomics 2020 13:101

    Content type: Research article

    Published on:

  3. BMI is a strong indicator of complications from type I diabetes, especially under intensive treatment.

    Authors: Agnieszka H. Ludwig-Słomczyńska, Michał T. Seweryn, Przemysław Kapusta, Ewelina Pitera, Samuel K. Handelman, Urszula Mantaj, Katarzyna Cyganek, Paweł Gutaj, Łucja Dobrucka, Ewa Wender-Ożegowska, Maciej T. Małecki and Paweł P. Wołkow

    Citation: BMC Medical Genomics 2020 13:97

    Content type: Research article

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  4. Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13). NIPT has high sensitivity and high sp...

    Authors: Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan and Wei-Wu Shi

    Citation: BMC Medical Genomics 2020 13:96

    Content type: Case report

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  5. Age-related macular degeneration (AMD) is a progressive retinal disease contributing to blindness worldwide. Multiple estimates for AMD heritability (h2) exist; however, a substantial proportion of h2 is not attr...

    Authors: Andrea R. Waksmunski, Michelle Grunin, Tyler G. Kinzy, Robert P. Igo Jr, Jonathan L. Haines and Jessica N. Cooke Bailey

    Citation: BMC Medical Genomics 2020 13:95

    Content type: Research article

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  6. Research grade Fresh Frozen (FF) DNA material is not yet routinely collected in clinical practice. Many hospitals, however, collect and store Formalin Fixed Paraffin Embedded (FFPE) tumor samples. Consequently...

    Authors: Louise de Schaetzen van Brienen, Maarten Larmuseau, Kim Van der Eecken, Frederic De Ryck, Pauline Robbe, Anna Schuh, Jan Fostier, Piet Ost and Kathleen Marchal

    Citation: BMC Medical Genomics 2020 13:94

    Content type: Research article

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  7. Left-sided heart failure (HF) is documented as a key prognostic factor in HF. However, the relative molecular mechanisms underlying left-sided HF is unknown. The purpose of this study is to unearth significant...

    Authors: Jiamin Zhou, Wei Zhang, Chunying Wei, Zhiliang Zhang, Dasong Yi, Xiaoping Peng, Jingtian Peng, Ran Yin, Zeqi Zheng, Hongmei Qi, Yunfeng Wei and Tong Wen

    Citation: BMC Medical Genomics 2020 13:93

    Content type: Research article

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  8. The role of histone modifications is poorly characterized in breast cancer, especially within the major subtypes. While epigenetic modifications may enhance the adaptability of a cell to both therapy and the s...

    Authors: Damien Kaukonen, Riina Kaukonen, Lélia Polit, Bryan T. Hennessy, Riikka Lund and Stephen F. Madden

    Citation: BMC Medical Genomics 2020 13:92

    Content type: Research article

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  9. Genetic associations link hematopoietic traits and disease end-points, but most causal variants and genes underlying these relationships are unknown. Here, we used genetic colocalization to nominate loci and g...

    Authors: Christopher S. Thom and Benjamin F. Voight

    Citation: BMC Medical Genomics 2020 13:89

    Content type: Research article

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  10. Medulloblastoma (MB) is one of the most common malignant cancers in children. MB is primarily classified into four subgroups based on molecular and clinical characteristics as (1) WNT (2) Sonic-hedgehog (SHH) ...

    Authors: Varun Kesherwani, Mamta Shukla, Don W. Coulter, J. Graham Sharp, Shantaram S. Joshi and Nagendra K. Chaturvedi

    Citation: BMC Medical Genomics 2020 13:87

    Content type: Research article

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  11. Pulmonary arterial hypertension (PAH) is a life-threatening condition. The aim of this study was to explore potential crucial genes and pathways associated with PAH based on integrative analyses of gene expres...

    Authors: Jing Luo, Haiyan Li, Zhenwei Liu, Chenlu Li, Ruochen Wang, Jinxia Fang, Saisai Lu, Jing Guo, Xiaochun Zhu and Xiaobing Wang

    Citation: BMC Medical Genomics 2020 13:86

    Content type: Research article

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  12. Oesophageal atresia (OA) is a life-threatening developmental defect characterized by a lost continuity between the upper and lower oesophagus. The most common form is a distal connection between the trachea an...

    Authors: Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk and Niklas Dahl

    Citation: BMC Medical Genomics 2020 13:85

    Content type: Research article

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  13. A growing evidence suggests that long non-coding RNAs (lncRNAs) can function as a microRNA (miRNA) sponge in various diseases including oral cancer. However, the pathophysiological function of lncRNAs remains ...

    Authors: Junhao Yin, Xiaoli Zeng, Zexin Ai, Miao Yu, Yang’ou Wu and Shengjiao Li

    Citation: BMC Medical Genomics 2020 13:84

    Content type: Research article

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  14. The majority of copy number callers requires high read coverage data that is often achieved with elevated material input, which increases the heterogeneity of tissue samples. However, to gain insights into sma...

    Authors: Stefanie Friedrich, Remus Barbulescu, Thomas Helleday and Erik L. L. Sonnhammer

    Citation: BMC Medical Genomics 2020 13:76

    Content type: Software

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  15. Recurrent pregnancy loss (RPL) is a significant adverse pregnancy complication, with an incompletely understood pathology. While many entities were proposed to elucidate the pathogenic basis of RPL, only few w...

    Authors: Wael Bahia, Ismael Soltani, Anouar Abidi, Anis Haddad, Salima Ferchichi, Samia Menif and Wassim Y. Almawi

    Citation: BMC Medical Genomics 2020 13:75

    Content type: Research article

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  17. Thalassemia is a hereditary hemolytic anemia with a severity ranging from mild, non-transfusion dependent to severe chronic anemia requiring lifelong transfusion. Transfusional iron overload is a major complic...

    Authors: Nithita Nanthatanti, Adisak Tantiworawit, Pokpong Piriyakhuntorn, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Wirote Tuntiwechapikul, Kanda Fanhchaksai, Pimlak Charoenkwan, Sirinart Kumfu and Nipon Chattipakorn

    Citation: BMC Medical Genomics 2020 13:73

    Content type: Research article

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  19. Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for...

    Authors: Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen and Min Sheng

    Citation: BMC Medical Genomics 2020 13:70

    Content type: Research article

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  20. Chromothripsis is an event of genomic instability leading to complex chromosomal alterations in cancer. Frequent long-range chromatin interactions between transcription factors (TFs) and targets may promote ex...

    Authors: Chun-Lin Lin, Xi Tan, Meizhen Chen, Meena Kusi, Chia-Nung Hung, Chih-Wei Chou, Ya-Ting Hsu, Chiou-Miin Wang, Nameer Kirma, Chun-Liang Chen, Ching-Hung Lin, Kate I. Lathrop, Richard Elledge, Virginia G. Kaklamani, Kohzoh Mitsuya and Tim H.-M. Huang

    Citation: BMC Medical Genomics 2020 13:69

    Content type: Research article

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  21. The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, pa...

    Authors: Mahmoud Y. Issa, Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy-Venneri, Denice Belandres, Hasnaa M. Elbendary, Khaled R. Gaber, Ahmed Nabil, Mohamed S. Abdel-Hamid, Maha S. Zaki and Joseph G. Gleeson

    Citation: BMC Medical Genomics 2020 13:68

    Content type: Research article

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  22. High-throughput transcriptomics measures mRNA levels for thousands of genes in a biological sample. Most gene expression studies aim to identify genes that are differentially expressed between different biolog...

    Authors: Apostolos Malatras, Ioannis Michalopoulos, Stéphanie Duguez, Gillian Butler-Browne, Simone Spuler and William J. Duddy

    Citation: BMC Medical Genomics 2020 13:67

    Content type: Database

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  23. Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ...

    Authors: Qingming Wang, Pengliang Chen, Jianxin Liu, Jiwu Lou, Yanhui Liu and Haiming Yuan

    Citation: BMC Medical Genomics 2020 13:66

    Content type: Case report

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  25. Circular RNAs are non-coding RNA molecules with gene regulatory potential that have been associated with several human diseases. They are stable and present in the circulation, making them excellent candidates...

    Authors: Shahnaz Haque, Ryan M. Ames, Karen Moore, Benjamin P. Lee, Nicola Jeffery and Lorna W. Harries

    Citation: BMC Medical Genomics 2020 13:64

    Content type: Research article

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  26. Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in ...

    Authors: Živilė Maldžienė, Evelina M. Vaitėnienė, Beata Aleksiūnienė, Algirdas Utkus and Eglė Preikšaitienė

    Citation: BMC Medical Genomics 2020 13:63

    Content type: Case report

    Published on:

  28. Despite the emergence of cell-free DNA (cfDNA) as a clinical biomarker in cancer, the tissue origins of cfDNA in healthy individuals have to date been inferred only by indirect and relative measurement methods...

    Authors: Danny Laurent, Fiona Semple, Philip J. Starkey Lewis, Elaine Rose, Holly A. Black, Jennifer Coe, Stuart J. Forbes, Mark J. Arends, James W. Dear and Timothy J. Aitman

    Citation: BMC Medical Genomics 2020 13:60

    Content type: Research article

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  29. Escherichia coli are mostly commensals but also contain pathogenic lineages. It is largely unclear whether the commensal E. coli as the potential origins of pathogenic lineages may consist of monophyletic or poly...

    Authors: Le Tang, Yu-Jie Zhou, Songling Zhu, Gong-Da Liang, He Zhuang, Man-Fei Zhao, Xiao-Yun Chang, Hai-Ning Li, Zheng Liu, Zhi-Rong Guo, Wei-Qiao Liu, Xiaoyan He, Chun-Xiao Wang, Dan-Dan Zhao, Jia-Jing Li, Xiao-Qin Mu…

    Citation: BMC Medical Genomics 2020 13:59

    Content type: Research article

    Published on:

  30. The use of high-throughput analytical techniques has enabled the description of acute lymphoblastic leukaemia (ALL) subtypes. The TCF3-HLF translocation is a very rare rearrangement in ALL that is associated with...

    Authors: Monika Lejman, Monika Włodarczyk, Joanna Zawitkowska and Jerzy R. Kowalczyk

    Citation: BMC Medical Genomics 2020 13:58

    Content type: Case report

    Published on:

  31. Alzheimer’s disease (AD) is one of the leading causes of death in the US and there is no validated drugs to stop, slow or prevent AD. Despite tremendous effort on biomarker discovery, existing findings are mos...

    Authors: Yurika Upadhyaya, Linhui Xie, Paul Salama, Sha Cao, Kwangsik Nho, Andrew J. Saykin, Jingwen Yan and for the Alzheimer’s Disease Neuroimaging Initiative

    Citation: BMC Medical Genomics 2020 13(Suppl 5):53

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  32. Neoantigens can be differentially recognized by T cell receptor (TCR) as these sequences are derived from mutant proteins and are unique to the tumor. The discovery of neoantigens is the first key step for tum...

    Authors: Yuyu Li, Guangzhi Wang, Xiaoxiu Tan, Jian Ouyang, Menghuan Zhang, Xiaofeng Song, Qi Liu, Qibin Leng, Lanming Chen and Lu Xie

    Citation: BMC Medical Genomics 2020 13(Suppl 5):52

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  33. Given the vast range of molecular mechanisms giving rise to breast cancer, it is unlikely universal cures exist. However, by providing a more precise prognosis for breast cancer patients through integrative mo...

    Authors: Sasha Smerekanych, Travis S. Johnson, Kun Huang and Yan Zhang

    Citation: BMC Medical Genomics 2020 13(Suppl 5):51

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  34. Pancreatic ductal adenocarcinoma (PDAC) is the most common pancreatic malignancy. Due to its wide heterogeneity, PDAC acts aggressively and responds poorly to most chemotherapies, causing an urgent need for th...

    Authors: Enze Liu, Zhuang Zhuang Zhang, Xiaolin Cheng, Xiaoqi Liu and Lijun Cheng

    Citation: BMC Medical Genomics 2020 13(Suppl 5):50

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  35. While several multigene signatures are available for predicting breast cancer prognosis, particularly in early stage disease, effective molecular indicators are needed, especially for triple-negative carcinoma...

    Authors: Chuanpeng Dong, Jiannan Liu, Steven X. Chen, Tianhan Dong, Guanglong Jiang, Yue Wang, Huanmei Wu, Jill L. Reiter and Yunlong Liu

    Citation: BMC Medical Genomics 2020 13(Suppl 5):49

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  36. Multiple sclerosis (MS) is a complex disease in which the immune system attacks the central nervous system. The molecular mechanisms contributing to the etiology of MS remain poorly understood. Genome-wide ass...

    Authors: Astrid M. Manuel, Yulin Dai, Leorah A. Freeman, Peilin Jia and Zhongming Zhao

    Citation: BMC Medical Genomics 2020 13(Suppl 5):48

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  37. In this editorial, we briefly summarized the International Conference on Intelligent Biology and Medicine 2019 (ICIBM 2019) that was held on June 9–11, 2019 at Columbus, Ohio, USA. We further introduced the 19...

    Authors: Chi Zhang, Ewy Mathé, Xia Ning, Zhongming Zhao, Kai Wang, Lang Li and Yan Guo

    Citation: BMC Medical Genomics 2020 13(Suppl 5):47

    Content type: Introduction

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  38. With the development of next generation sequencing (NGS) technology and genotype imputation methods, statistical methods have been proposed to test a set of genomic variants together to detect if any of them i...

    Authors: Xiaoyu Cai, Lo-Bin Chang, Jordan Potter and Chi Song

    Citation: BMC Medical Genomics 2020 13(Suppl 5):46

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  39. Initially characterized as axon guidance factors, semaphorins also have been implicated to have critical roles in multiple physiological and developmental functions, including the regulation of immune response...

    Authors: Xiaoli Zhang, Brett Klamer, Jin Li, Soledad Fernandez and Lang Li

    Citation: BMC Medical Genomics 2020 13(Suppl 5):45

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  40. Precise prediction of cancer types is vital for cancer diagnosis and therapy. Through a predictive model, important cancer marker genes can be inferred. Several studies have attempted to build machine learning...

    Authors: Milad Mostavi, Yu-Chiao Chiu, Yufei Huang and Yidong Chen

    Citation: BMC Medical Genomics 2020 13(Suppl 5):44

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  41. Non-synonymous mutations altering tumor suppressor genes and oncogenes are widely studied. However, synonymous mutations, which do not alter the protein sequence, are rarely investigated in melanoma genome stu...

    Authors: Di Zhang and Junfeng Xia

    Citation: BMC Medical Genomics 2020 13(Suppl 5):43

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  42. Currently, numerous studies indicate that circular RNA (circRNA) is associated with various human complex diseases. While identifying disease-related circRNAs in vivo is time- and labor-consuming, a feasible a...

    Authors: Menglu Li, Mengya Liu, Yannan Bin and Junfeng Xia

    Citation: BMC Medical Genomics 2020 13(Suppl 5):42

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  43. Recent advances in kernel-based Deep Learning models have introduced a new era in medical research. Originally designed for pattern recognition and image processing, Deep Learning models are now applied to sur...

    Authors: Zhi Huang, Travis S. Johnson, Zhi Han, Bryan Helm, Sha Cao, Chi Zhang, Paul Salama, Maher Rizkalla, Christina Y. Yu, Jun Cheng, Shunian Xiang, Xiaohui Zhan, Jie Zhang and Kun Huang

    Citation: BMC Medical Genomics 2020 13(Suppl 5):41

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  44. Discovering a highly accurate and robust gene signature for the prediction of breast cancer metastasis from gene expression profiling of primary tumors is one of the most challenging tasks to reduce the number...

    Authors: Nahim Adnan, Zhijie Liu, Tim H.M. Huang and Jianhua Ruan

    Citation: BMC Medical Genomics 2020 13(Suppl 5):40

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  45. Cleft lip with or without cleft palate (CL/P) is one of the most common congenital human birth defects. A combination of genetic and epidemiology studies has contributed to a better knowledge of CL/P-associate...

    Authors: Fangfang Yan, Yulin Dai, Junichi Iwata, Zhongming Zhao and Peilin Jia

    Citation: BMC Medical Genomics 2020 13(Suppl 5):39

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  46. Elucidating molecular mechanisms that are altered during HIV-1 infection may provide a better understanding of the HIV-1 life cycle and how it interacts with infected T-cells. One such mechanism is alternative...

    Authors: Seyoun Byun, Seonggyun Han, Yue Zheng, Vicente Planelles and Younghee Lee

    Citation: BMC Medical Genomics 2020 13(Suppl 5):38

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 5

  47. As the sixth most common cancer worldwide, head and neck squamous cell carcinoma (HNSCC) develops visceral metastases during the advanced stage of the disease and exhibits a low five-year survival rate. The im...

    Authors: Zhaoming Zhong, Min Hong, Xiao Chen, Yan Xi, Yuanyuan Xu, Deyu Kong, Jun Deng, Yun Li, Rui Hu, Chuanzheng Sun and Jin Liang

    Citation: BMC Medical Genomics 2020 13:57

    Content type: Research article

    Published on:

  48. The established role miRNA-mRNA regulation of gene expression has in oncogenesis highlights the importance of integrating miRNA with downstream mRNA targets. These findings call for investigations aimed at ide...

    Authors: Rency S. Varghese, Yuan Zhou, Megan Barefoot, Yifan Chen, Cristina Di Poto, Abdalla Kara Balla, Everett Oliver, Zaki A. Sherif, Deepak Kumar, Alexander H. Kroemer, Mahlet G. Tadesse and Habtom W. Ressom

    Citation: BMC Medical Genomics 2020 13:56

    Content type: Research article

    Published on:

  49. Copy number variants (CNVs) have been reported to be associated with diseases, traits, and evolution. However, it is hard to determine which gene should have priority as a target for further functional experim...

    Authors: Maria Yamasaki, Takashi Makino, Seik-Soon Khor, Hiromi Toyoda, Taku Miyagawa, Xiaoxi Liu, Hitoshi Kuwabara, Yukiko Kano, Takafumi Shimada, Toshiro Sugiyama, Hisami Nishida, Nagisa Sugaya, Mamoru Tochigi, Takeshi Otowa, Yuji Okazaki, Hisanobu Kaiya…

    Citation: BMC Medical Genomics 2020 13:55

    Content type: Research article

    Published on:

  50. Autism is a complex disease involving both environmental and genetic factors. Recent efforts have implicated the correlation of genomic imprinting and brain development in autism, however the pathogenesis of a...

    Authors: Jian Li, Xue Lin, Mingya Wang, Yunyun Hu, Kaiyu Xue, Shuanglin Gu, Li Lv, Saijun Huang and Wei Xie

    Citation: BMC Medical Genomics 2020 13:54

    Content type: Research article

    Published on:

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