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  1. 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:

  2. 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:

  3. 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:

  4. 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:

  5. Obesity is common among kidney transplant recipients; However biological mediators of obesity are not well understood in this population. Because subcutaneous adipose tissue can be easily obtained during kidne...

    Authors: Rosario B. Jaime-Lara, Abhrarup Roy, Yupeng Wang, Ansley Stanfill, Ann K. Cashion and Paule V. Joseph

    Citation: BMC Medical Genomics 2020 13:37

    Content type: Research article

    Published on:

  6. Sepsis represents a complex disease with dysregulated inflammatory response and high mortality rate. Long noncoding RNAs (lncRNAs) have been reported to play regulatory roles in a variety of biological process...

    Authors: Zhenjiang Bai, Yiping Li, Yanhong Li, Jian Pan, Jian Wang and Fang Fang

    Citation: BMC Medical Genomics 2020 13:36

    Content type: Research article

    Published on:

  7. The human papillomaviruses (HPV) are a group of viruses that, depending on the strain, can cause cancer or the formation of benign growths known as warts. Scarce information exists with regard to the genetic n...

    Authors: Laith N. AL-Eitan, Amneh H. Tarkhan, Mansour A. Alghamdi, Firas A. Al-Qarqaz and Hadeel S. Al-Kofahi

    Citation: BMC Medical Genomics 2020 13:35

    Content type: Research article

    Published on:

  8. Application of whole genome sequencing (WGS) enables identification of non-coding variants that play a phenotype-modifying role and are undetectable by exome sequencing. Recently, non-coding regulatory single ...

    Authors: Justyna A. Karolak, Tomasz Gambin, Engela M. Honey, Tomas Slavik, Edwina Popek and Paweł Stankiewicz

    Citation: BMC Medical Genomics 2020 13:34

    Content type: Case report

    Published on:

  9. Few somatic mutations have been linked to breast cancer metastasis, whereas transcriptomic differences among primary tumors correlate with incidence of metastasis, especially to the lungs and brain. However, t...

    Authors: Wesley L. Cai, Celeste B. Greer, Jocelyn F. Chen, Anna Arnal-Estapé, Jian Cao, Qin Yan and Don X. Nguyen

    Citation: BMC Medical Genomics 2020 13:33

    Content type: Research article

    Published on:

  10. Pediatric leukemias have a diverse genomic landscape associated with complex structural variants, including gene fusions, insertions and deletions, and single nucleotide variants. Routine karyotype and fluores...

    Authors: Erin L. Crowgey, Nitin Mahajan, Wing Hing Wong, Anilkumar Gopalakrishnapillai, Sonali P. Barwe, E. Anders Kolb and Todd E. Druley

    Citation: BMC Medical Genomics 2020 13:32

    Content type: Research article

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  11. Chromosome deletions of the long arm of chromosome 4 in 4q syndrome are characterized by mild facial and digital dysmorphism, developmental delay, growth retardation, and skeletal and cardiac anomalies, which ...

    Authors: Maolan Wu, Xiangrong Zheng, Xia Wang, Guoyuan Zhang and Jian Kuang

    Citation: BMC Medical Genomics 2020 13:31

    Content type: Case report

    Published on:

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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:

  18. 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

  19. 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:

  20. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. 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:

  26. 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:

  27. 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:

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  32. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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:

  38. 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:

  39. 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:

  40. 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:

  41. 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:

  43. 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:

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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

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