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  1. In cancer, mutations of DNA methylation modification genes have crucial roles for epigenetic modifications genome-wide, which lead to the activation or suppression of important genes including tumor suppressor...

    Authors: Chai-Jin Lee, Hongryul Ahn, Dabin Jeong, Minwoo Pak, Ji Hwan Moon and Sun Kim

    Citation: BMC Medical Genomics 2020 13(Suppl 3):27

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 3

  2. Genome-wide association studies (GWAS) have been widely used to identify phenotype-related genetic variants using many statistical methods, such as logistic and linear regression. However, GWAS-identified SNPs...

    Authors: Nan Jiang, Sungyoung Lee and Taesung Park

    Citation: BMC Medical Genomics 2020 13(Suppl 3):26

    Content type: Methodology

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 3

  3. Breast cancer is a collection of multiple tissue pathologies, each with a distinct molecular signature that correlates with patient prognosis and response to therapy. Accurately differentiating between breast ...

    Authors: Adham Beykikhoshk, Thomas P. Quinn, Samuel C. Lee, Truyen Tran and Svetha Venkatesh

    Citation: BMC Medical Genomics 2020 13(Suppl 3):20

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 3

  4. The current understanding of the genetic basis of complex human diseases is that they are caused and affected by many common and rare genetic variants. A considerable number of the disease-associated variants ...

    Authors: Haohan Wang, Michael M. Vanyukov, Eric P. Xing and Wei Wu

    Citation: BMC Medical Genomics 2020 13(Suppl 3):19

    Content type: Technical Advance

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 3

  5. Multidimensional data mining from an integrated environment of different data sources is frequently performed in computational system biology. The molecular mechanism from the analysis of a complex network of ...

    Authors: Md. Altaf-Ul-Amin, Mohammad Bozlul Karim, Pingzhao Hu, Naoaki ONO and Shigehiko Kanaya

    Citation: BMC Medical Genomics 2020 13(Suppl 3):10

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 3

  6. Cancer neoantigens have attracted great interest in immunotherapy due to their capacity to elicit antitumoral responses. These molecules arise from somatic mutations in cancer cells, resulting in alterations o...

    Authors: Ana Carolina M. F. Coelho, André L. Fonseca, Danilo L. Martins, Paulo B. R. Lins, Lucas M. da Cunha and Sandro J. de Souza

    Citation: BMC Medical Genomics 2020 13:30

    Content type: Software

    Published on:

  7. Many previous clinical studies have found that accumulated sequential mutations are statistically related to tumorigenesis. However, they are limited in fully elucidating the significance of the ordered-mutati...

    Authors: Maulida Mazaya, Hung-Cuong Trinh and Yung-Keun Kwon

    Citation: BMC Medical Genomics 2020 13(Suppl 4):13

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 4

  8. Single cell RNA sequencing provides unprecedented opportunity to simultaneously explore the transcriptomic and immune receptor diversity of T and B cells. However, there are limited tools available that simult...

    Authors: Jerome Samir, Simone Rizzetto, Money Gupta and Fabio Luciani

    Citation: BMC Medical Genomics 2020 13:29

    Content type: Software

    Published on:

  9. Influenza infections produce a spectrum of disease severity, ranging from a mild respiratory illness to respiratory failure and death. The host-response pathways associated with the progression to severe influ...

    Authors: Yoann Zerbib, Emily K. Jenkins, Maryam Shojaei, Adrienne F. A. Meyers, John Ho, T. Blake Ball, Yoav Keynan, Amarnath Pisipati, Aseem Kumar, Anand Kumar, Marek Nalos, Benjamin M. Tang, Klaus Schughart and Anthony McLean

    Citation: BMC Medical Genomics 2020 13:28

    Content type: Research article

    Published on:

  10. The amniotic fluid (AF) cell-free transcriptome is modulated by physiologic and pathologic processes during pregnancy. AF gene expression changes with advancing gestation reflect fetal development and organ ma...

    Authors: Adi L. Tarca, Roberto Romero, Roger Pique-Regi, Percy Pacora, Bogdan Done, Marian Kacerovsky, Gaurav Bhatti, Sunil Jaiman, Sonia S. Hassan, Chaur-Dong Hsu and Nardhy Gomez-Lopez

    Citation: BMC Medical Genomics 2020 13:25

    Content type: Research article

    Published on:

  11. Kidney transplantation is the most effective treatment for end-stage renal disease. Allograft rejections severely affect survivals of allograft kidneys and recipients.

    Authors: Mei Meng, Weitao Zhang, Qunye Tang, Baixue Yu, Tingting Li, Ruiming Rong, Tongyu Zhu, Ming Xu and Yi Shi

    Citation: BMC Medical Genomics 2020 13:24

    Content type: Research article

    Published on:

  12. In 2013, our laboratory designed a targeted sequencing panel, “LipidSeq”, to study the genetic determinants of dyslipidemia and metabolic disorders. Over the last 6 years, we have analyzed 3262 patient samples...

    Authors: Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Michael A. Iacocca, John F. Robinson, Matthew R. Ban, Henian Cao and Robert A. Hegele

    Citation: BMC Medical Genomics 2020 13:23

    Content type: Research article

    Published on:

  13. The survival of INA-6 human multiple myeloma cells is strictly dependent upon the Interleukin-6-activated transcription factor STAT3. Although transcriptional analyses have revealed many genes regulated by STA...

    Authors: Stefanie Binder, Ivonne Zipfel, Maik Friedrich, Diana Riedel, Stefanie Ende, Christoph Kämpf, Karolin Wiedemann, Tilo Buschmann, Sven-Holger Puppel, Kristin Reiche, Peter F. Stadler and Friedemann Horn

    Citation: BMC Medical Genomics 2020 13:22

    Content type: Research article

    Published on:

  14. The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs in families with a history of breast/ovarian cancer, presenting an autosomal dominant inheritance pattern. BRCA1 and BRCA2 are high penetrance genes...

    Authors: Simone da Costa e Silva Carvalho, Nathalia Moreno Cury, Danielle Barbosa Brotto, Luiza Ferreira de Araujo, Reginaldo Cruz Alves Rosa, Lorena Alves Texeira, Jessica Rodrigues Plaça, Adriana Aparecida Marques, Kamila Chagas Peronni, Patricia de Cássia Ruy, Greice Andreotti Molfetta, Julio Cesar Moriguti, Dirce Maria Carraro, Edenir Inêz Palmero, Patricia Ashton-Prolla, Victor Evangelista de Faria Ferraz…

    Citation: BMC Medical Genomics 2020 13:21

    Content type: Research article

    Published on:

  15. The most common histological subtypes of esophageal cancer are squamous cell carcinoma (ESCC) and adenocarcinoma (EAC). It has been demonstrated that non-marginal differences in gene expression and somatic alt...

    Authors: Suyan Tian, Chi Wang, Jing Zhang and Dan Yu

    Citation: BMC Medical Genomics 2020 13:18

    Content type: Research article

    Published on:

  16. Next-Generation Sequencing (NGS) enables large-scale and cost-effective sequencing of genetic samples in order to detect genetic variants. After successful use in research-oriented projects, NGS is now enterin...

    Authors: Christian Wünsch, Henrik Banck, Carsten Müller-Tidow and Martin Dugas

    Citation: BMC Medical Genomics 2020 13:17

    Content type: Software

    Published on:

  17. Coeliac disease (CD) is a autoimmune disease characterised by mucosal inflammation in the small intestine in response to dietary gluten. Genetic factors play a key role with CD individuals carrying either the ...

    Authors: Nerissa L. Hearn, Christine L. Chiu and Joanne M. Lind

    Citation: BMC Medical Genomics 2020 13:16

    Content type: Research article

    Published on:

  18. Multifocal lung cancers (MLCs) are common in patients newly diagnosed with lung cancer, and histological results of most synchronous MLCs are similar. Few cases with different histology findings have been repo...

    Authors: Licheng Wu, Poming Kang, Shaolin Tao, Zhikun Zhao, Longyun Chen, Yajie Xiao and Qunyou Tan

    Citation: BMC Medical Genomics 2020 13:15

    Content type: Case report

    Published on:

  19. Rhodesiense sleeping sickness is caused by infection with T. b rhodesiense parasites resulting in an acute disease that is fatal if not treated in time. The aim of this study was to understand the global impact o...

    Authors: Julius Mulindwa, Enock Matovu, John Enyaru and Christine Clayton

    Citation: BMC Medical Genomics 2020 13:14

    Content type: Research article

    Published on:

  20. Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transm...

    Authors: Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau and Pierre-Antoine Faye

    Citation: BMC Medical Genomics 2020 13:12

    Content type: Case report

    Published on:

  21. Whole-genome sequencing (WGS) is becoming an increasingly important tool for detecting genomic variation. Blood derived DNA is the current standard for WGS for research or clinical purposes but may not always ...

    Authors: Roderick A. Yao, Oyediran Akinrinade, Marie Chaix and Seema Mital

    Citation: BMC Medical Genomics 2020 13:11

    Content type: Research article

    Published on:

  22. Influenza reassortment, a mechanism where influenza viruses exchange their RNA segments by co-infecting a single cell, has been implicated in several major pandemics since 19th century. Owing to the significan...

    Authors: Rui Yin, Xinrui Zhou, Shamima Rashid and Chee Keong Kwoh

    Citation: BMC Medical Genomics 2020 13:9

    Content type: Technical Advance

    Published on:

  23. Psoriasis is a chronic inflammatory skin disease, for which genome-wide association studies (GWAS) have identified many genetic variants as risk markers. However, the details of underlying molecular mechanisms...

    Authors: Naoto Kubota and Mikita Suyama

    Citation: BMC Medical Genomics 2020 13:8

    Content type: Research article

    Published on:

  24. Inhibitors of apoptosis proteins (IAPs) are a family of antiapoptotic proteins modulating cell cycle, signal transduction and apoptosis. Dysregulated IAPs have been reported to contribute to tumor progression ...

    Authors: Jianfeng Liang, Wanni Zhao, Pan Tong, Ping Li, Yuanli Zhao, Hua Li and Jun Liang

    Citation: BMC Medical Genomics 2020 13:7

    Content type: Research article

    Published on:

  25. Prostate cancer (PCa) has the highest incidence rates of cancers in men in western countries. Unlike several other types of cancer, PCa has few genetic drivers, which has led researchers to look for additional...

    Authors: Ieva Rauluseviciute, Finn Drabløs and Morten Beck Rye

    Citation: BMC Medical Genomics 2020 13:6

    Content type: Research article

    Published on:

  26. Membranous glomerulonephritis (MGN) is a common kidney disease. Despite many evidences support that many immune and inflammation-related genes could serve as effective biomarkers and treatment targets for MGN ...

    Authors: Chengwei Zhang, Lei Leng, Zhaozheng Li, Yao Zhao and Jundong Jiao

    Citation: BMC Medical Genomics 2020 13:5

    Content type: Research article

    Published on:

  27. Dysregulation of alternative splicing (AS) is a critical signature of cancer. However, the regulatory mechanisms of cancer-specific AS events, especially the impact of DNA methylation, are poorly understood.

    Authors: Xiaohui Sun, Yiping Tian, Jianming Wang, Zeyuan Sun and Yimin Zhu

    Citation: BMC Medical Genomics 2020 13:4

    Content type: Research article

    Published on:

  28. MiR-182-5p, a cancer-related microRNA (miRNA), modulates tumorigenesis and patient outcomes in various human malignances. This study interroted the clinicopathological significance and molecular mechanisms of ...

    Authors: Li Gao, Shi-bai Yan, Jie Yang, Jin-liang Kong, Ke Shi, Fu-chao Ma, Lin-zhen Huang, Jie Luo, Shu-ya Yin, Rong-quan He, Xiao-hua Hu and Gang Chen

    Citation: BMC Medical Genomics 2020 13:3

    Content type: Research article

    Published on:

  29. 12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been character...

    Authors: Sofia Dória, Daniela Alves, Maria João Pinho, Joel Pinto and Miguel Leão

    Citation: BMC Medical Genomics 2020 13:2

    Content type: Case report

    Published on:

  30. Osteoarthritis is a chronic musculoskeletal disease characterized by age-related gradual thinning and a high risk in females. Recent studies have shown that DNA methylation plays important roles in osteoarthri...

    Authors: Xiaozong Lin, Li Li, Xiaojuan Liu, Jun Tian, Weizhuo Zheng, Jin Li and Limei Wang

    Citation: BMC Medical Genomics 2020 13:1

    Content type: Research article

    Published on:

  32. The clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant gene...

    Authors: Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet and Simon Fishilevich

    Citation: BMC Medical Genomics 2019 12:200

    Content type: Software

    Published on:

  33. Cancer as a kind of genomic alteration disease each year deprives many people’s life. The biggest challenge to overcome cancer is to identify driver genes that promote the cancer development from a huge amount...

    Authors: Junrong Song, Wei Peng, Feng Wang and Jianxin Wang

    Citation: BMC Medical Genomics 2019 12(Suppl 7):168

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  34. Comorbidity is the phenomenon of two or more diseases occurring simultaneously not by random chance and presents great challenges to accurate diagnosis and treatment. As an effort toward better understanding t...

    Authors: Pakeeza Akram and Li Liao

    Citation: BMC Medical Genomics 2019 12(Suppl 7):161

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  35. Colon cancer is one of the common cancers in human. Although the number of annual cases has decreased drastically, prognostic screening and translational methods can be improved. Hence, it is critical to under...

    Authors: Jia Wen, Benika Hall and Xinghua Shi

    Citation: BMC Medical Genomics 2019 12(Suppl 7):158

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  36. Gene co-expression network is a favorable method to reveal the nature of disease. With the development of cancer, the way to build gene co-expression networks based on cancer data has been become a hot spot. H...

    Authors: Mi-Xiao Hou, Ying-Lian Gao, Jin-Xing Liu, Junliang Shang, Rong Zhu and Sha-Sha Yuan

    Citation: BMC Medical Genomics 2019 12(Suppl 7):155

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  37. Advanced non-invasive neuroimaging techniques offer new approaches to study functions and structures of human brains. Whole-brain functional networks obtained from resting state functional magnetic resonance i...

    Authors: Lingkai Tang, Sakib Mostafa, Bo Liao and Fang-Xiang Wu

    Citation: BMC Medical Genomics 2019 12(Suppl 7):153

    Content type: Technical Advance

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  38. Although there are huge volumes of genomic data, how to decipher them and identify driver events is still a challenge. The current methods based on network typically use the relationship between genomic events...

    Authors: Ying Hui, Pi-Jing Wei, Junfeng Xia, Yu-Tian Wang and Chun-Hou Zheng

    Citation: BMC Medical Genomics 2019 12(Suppl 7):140

    Content type: Methodology

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  39. Detecting single nucleotide polymorphism (SNP) interactions is an important and challenging task in genome-wide association studies (GWAS). Various efforts have been devoted to detect SNP interactions. However...

    Authors: Xia Cao, Jie Liu, Maozu Guo and Jun Wang

    Citation: BMC Medical Genomics 2019 12(Suppl 7):139

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  40. In genome-wide association study (GWAS), conventional interaction detection methods such as BOOST are mostly based on SNP-SNP interactions. Although single nucleotides are the building blocks of human genome, ...

    Authors: Sen Zhang, Wei Jiang, Ronald CW Ma and Weichuan Yu

    Citation: BMC Medical Genomics 2019 12(Suppl 7):133

    Content type: Methodology

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  41. Most statistical methods used to identify cancer driver genes are either biased due to choice of assumed parametric models or insensitive to directional relationships important for causal inference. To overcom...

    Authors: Hua Zhong and Mingzhou Song

    Citation: BMC Medical Genomics 2019 12(Suppl 7):129

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 7

  42. Systemic sclerosis (SSc), a multi-organ disorder, is characterized by vascular abnormalities, dysregulation of the immune system, and fibrosis. The mechanisms underlying tissue pathology in SSc have not been e...

    Authors: Elham Karimizadeh, Ali Sharifi-Zarchi, Hassan Nikaein, Seyedehsaba Salehi, Bahar Salamatian, Naser Elmi, Farhad Gharibdoost and Mahdi Mahmoudi

    Citation: BMC Medical Genomics 2019 12:199

    Content type: Research article

    Published on:

  43. Recent high throughput technologies have been applied for collecting heterogeneous biomedical omics datasets. Computational analysis of the multi-omics datasets could potentially reveal deep insights for a giv...

    Authors: Yin Guo, Huiran Li, Menglan Cai and Limin Li

    Citation: BMC Medical Genomics 2019 12(Suppl 9):191

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 9

  44. The application of next-generation sequencing in cancer has revealed the genomic landscape of many tumour types and is nowadays routinely used in research and clinical settings. Multiple algorithms have been d...

    Authors: Qing Wang, Vassiliki Kotoula, Pei-Chen Hsu, Kyriaki Papadopoulou, Joshua W. K. Ho, George Fountzilas and Eleni Giannoulatou

    Citation: BMC Medical Genomics 2019 12(Suppl 9):181

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 9

  45. With the increasing amount of high-throughput genomic sequencing data, there is a growing demand for a robust and flexible tool to perform interaction analysis. The identification of SNP-SNP, SNP-CpG, and high...

    Authors: Rui Sun, Xiaoxuan Xia, Ka Chun Chong, Benny Chung-Ying Zee, William Ka Kei Wu and Maggie Haitian Wang

    Citation: BMC Medical Genomics 2019 12(Suppl 9):180

    Content type: Software

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 9

  46. Rhabdomyosarcoma (RMS), a common soft-tissue malignancy in pediatrics, presents high invasiveness and mortality. However, besides known changes in the PAX3/7-FOXO1 fusion gene in alveolar RMS, the molecular me...

    Authors: Qianru Li, Liang Zhang, Jinfang Jiang, Yangyang Zhang, Xiaomeng Wang, Qiaochu Zhang, Yang Wang, Chunxia Liu and Feng Li

    Citation: BMC Medical Genomics 2019 12:198

    Content type: Research article

    Published on:

  47. Understanding the complex biological mechanisms of cancer patient survival using genomic and clinical data is vital, not only to develop new treatments for patients, but also to improve survival prediction. Ho...

    Authors: Jie Hao, Youngsoon Kim, Tejaswini Mallavarapu, Jung Hun Oh and Mingon Kang

    Citation: BMC Medical Genomics 2019 12(Suppl 10):189

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

  48. Prediction of pathogenic genes is crucial for disease prevention, diagnosis, and treatment. But traditional genetic localization methods are often technique-difficulty and time-consuming. With the development ...

    Authors: Bo Xu, Yu Liu, Shuo Yu, Lei Wang, Jie Dong, Hongfei Lin, Zhihao Yang, Jian Wang and Feng Xia

    Citation: BMC Medical Genomics 2019 12(Suppl 10):188

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

  49. As a standardized vocabulary of phenotypic abnormalities associated with human diseases, the Human Phenotype Ontology (HPO) has been widely used by researchers to annotate phenotypes of genes/proteins. For sav...

    Authors: Junning Gao, Lizhi Liu, Shuwei Yao, Xiaodi Huang, Hiroshi Mamitsuka and Shanfeng Zhu

    Citation: BMC Medical Genomics 2019 12(Suppl 10):187

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

  50. Studies have shown that miRNAs are functionally associated with the development of many human diseases, but the roles of miRNAs in diseases and their underlying molecular mechanisms have not been fully underst...

    Authors: Yingjun Ma, Tingting He, Leixin Ge, Chenhao Zhang and Xingpeng Jiang

    Citation: BMC Medical Genomics 2019 12(Suppl 10):185

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 10

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