lunes, 13 de enero de 2020

BMC Medical Genomics | Articles

BMC Medical Genomics | Articles



  1. 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: 
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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: 
  12. 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
  13. 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
  14. 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
  15. 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: 
  16. 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
  17. 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
  18. 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
  19. It is significant to identificate complex biological mechanisms of various diseases in biomedical research. Recently, the growing generation of tremendous amount of data in genomics, epigenomics, metagenomics,...
    Authors:Yun Xiong, Mengjie Guo, Lu Ruan, Xiangnan Kong, Chunlei Tang, Yangyong Zhu and Wei Wang
    Citation:BMC Medical Genomics 2019 12(Suppl 10):186
    Content type:Research
    Published on: 
    This article is part of a Supplement: Volume 12 Supplement 10
  20. 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
  21. Accurate inference of the evolutionary history of a tumor has important implications for understanding and potentially treating the disease. While a number of methods have been proposed to reconstruct the evol...
    Authors:Kiran Tomlinson and Layla Oesper
    Citation:BMC Medical Genomics 2019 12(Suppl 10):184
    Content type:Research
    Published on: 
    This article is part of a Supplement: Volume 12 Supplement 10
  22. Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytog...
    Authors:Shaohua Sun, Fang Zhan, Jiusheng Jiang, Xuerui Zhang, Lei Yan, Weiyi Cai, Hailiang Liu and Donghua Cao
    Citation:BMC Medical Genomics 2019 12:197
    Content type:Case report
    Published on: 
  23. An important task in the interpretation of sequencing data is to highlight pathogenic genes (or detrimental variants) in the field of Mendelian diseases. It is still challenging despite the recent rapid develo...
    Authors:Yanhuang Jiang, Chengkun Wu, Yanghui Zhang, Shaowei Zhang, Shuojun Yu, Peng Lei, Qin Lu, Yanwei Xi, Hua Wang and Zhuo Song
    Citation:BMC Medical Genomics 2019 12(Suppl 8):193
    Content type:Software
    Published on: 
    This article is part of a Supplement: Volume 12 Supplement 8
  24. The early diagnosis of lung cancer has been a critical problem in clinical practice for a long time and identifying differentially expressed gene as disease marker is a promising solution. However, the most ex...
    Authors:Zhixun Zhao, Hui Peng, Xiaocai Zhang, Yi Zheng, Fang Chen, Liang Fang and Jinyan Li
    Citation:BMC Medical Genomics 2019 12(Suppl 8):183
    Content type:Research
    Published on: 
    This article is part of a Supplement: Volume 12 Supplement 8
  25. Molecular characterization of individual cancer patients is important because cancer is a complex and heterogeneous disease with many possible genetic and environmental causes. Many studies have been conducted...
    Authors:Byungkyu Park, Wook Lee, Inhee Park and Kyungsook Han
    Citation:BMC Medical Genomics 2019 12(Suppl 8):179
    Content type:Research
    Published on: 
    This article is part of a Supplement: Volume 12 Supplement 8
  26. The availability of high-throughput omics datasets from large patient cohorts has allowed the development of methods that aim at predicting patient clinical outcomes, such as survival and disease recurrence. S...
    Authors:Léon-Charles Tranchevent, Francisco Azuaje and Jagath C. Rajapakse
    Citation:BMC Medical Genomics 2019 12(Suppl 8):178
    Content type:Research
    Published on: 
    This article is part of a Supplement: Volume 12 Supplement 8
  27. Hepatitis B virus (HBV), hepatitis C virus (HCV), and alcohol consumption are predominant causes of hepatocellular carcinoma (HCC). However, the molecular mechanisms underlying how differently these causes are...
    Authors:Young-Joo Jin, Seyoun Byun, Seonggyun Han, John Chamberlin, Dongwook Kim, Min Jung Kim and Younghee Lee
    Citation:BMC Medical Genomics 2019 12(Suppl 8):175
    Content type:Research
    Published on: 
    This article is part of a Supplement: Volume 12 Supplement 8
  28. To facilitate the investigation of the pathogenic roles played by various immune cells in complex tissues such as tumors, a few computational methods for deconvoluting bulk gene expression profiles to predict ...
    Authors:Yen-Jung Chiu, Yi-Hsuan Hsieh and Yen-Hua Huang
    Citation:BMC Medical Genomics 2019 12(Suppl 8):169
    Content type:Research
    Published on: 
    This article is part of a Supplement: Volume 12 Supplement 8
  29. Hypospadias risk–associated gene variants have been reported in populations of European descent using genome-wide association studies (GWASs). There is little known at present about any possible hypospadias ri...
    Authors:Zhongzhong Chen, Xiaoling Lin, Yunping Lei, Haitao Chen, Richard H. Finnell, Yaping Wang, Jianfeng Xu, Daru Lu, Hua Xie and Fang Chen
    Citation:BMC Medical Genomics 2019 12:196
    Content type:Research article
    Published on: 
  30. Formalin-fixed, paraffin-embedded (FFPE) tissues for RNA-seq have advantages over fresh frozen tissue including abundance and availability, connection to rich clinical data, and association with patient outcom...
    Authors:Nathan D. Pennock, Sonali Jindal, Wesley Horton, Duanchen Sun, Jayasri Narasimhan, Lucia Carbone, Suzanne S. Fei, Robert Searles, Christina A. Harrington, Julja Burchard, Sheila Weinmann, Pepper Schedin and Zheng Xia
    Citation:BMC Medical Genomics 2019 12:195
    Content type:Research article
    Published on: 
  31. Competitive endogenous RNAs (ceRNAs) have revealed a new mechanism of interaction between RNAs. However, an understanding of the ceRNA regulatory network in Wilms tumour (WT) remains limited.
    Authors:Fucai Tang, Zechao Lu, Jiamin Wang, Zhibiao Li, Weijia Wu, Haifeng Duan and Zhaohui He
    Citation:BMC Medical Genomics 2019 12:194
    Content type:Research article
    Published on: 
  32. Neuroblastoma (NB) is the most common extracranial solid tumor found in children. The frequent gain/loss of many chromosome bands in tumor cells and absence of mutations found at diagnosis suggests that NB is ...
    Authors:Chao Qin, Xiaoyan He, Yanding Zhao, Chun-Yip Tong, Kenneth Y. Zhu, Yongqi Sun and Chao Cheng
    Citation:BMC Medical Genomics 2019 12:192
    Content type:Research article
    Published on: 
  33. Disease comorbidity is popular and has significant indications for disease progress and management. We aim to detect the general disease comorbidity patterns in Chinese populations using a large-scale clinical...
    Authors:Mengfei Guo, Yanan Yu, Tiancai Wen, Xiaoping Zhang, Baoyan Liu, Jin Zhang, Runshun Zhang, Yanning Zhang and Xuezhong Zhou
    Citation:BMC Medical Genomics 2019 12(Suppl 12):177
    Content type:Research
    Published on: 
    This article is part of a Supplement: Volume 12 Supplement 12
  34. When ordering genetic testing or triaging candidate variants in exome and genome sequencing studies, it is critical to generate and test a comprehensive list of candidate genes that succinctly describe the com...
    Authors:Aditya Ekawade, Matt Velinder, Alistair Ward, Tonya DiSera, Chase Miller, Yi Qiao and Gabor Marth
    Citation:BMC Medical Genomics 2019 12:190
    Content type:Software
    Published on: 
  35. Female carriers of a balanced X; autosome translocation generally undergo selective inactivation of the normal X chromosome. This is because inactivation of critical genes within the autosomal region of the de...
    Authors:Makiko Tsutsumi, Hiroyoshi Hattori, Nobuhiro Akita, Naoko Maeda, Toshinobu Kubota, Keizo Horibe, Naoko Fujita, Miki Kawai, Yasuko Shinkai, Maki Kato, Takema Kato, Rie Kawamura, Fumihiko Suzuki and Hiroki Kurahashi
    Citation:BMC Medical Genomics 2019 12:182
    Content type:Case report
    Published on: 
  36. Following publication of the original article [1], it was reported that during the production process, Fig. 3b was omitted from the final article.
    Authors:Huatuo Huang, Guijiang Wei, Chunfang Wang, Yulan Lu, Chunhong Liu, Rong Wang, Xiang Shi, Jun Yang and Yesheng Wei
    Citation:BMC Medical Genomics 2019 12:176
    Content type:Correction
    Published on: 
    The original article was published in BMC Medical Genomics 2019 12:159
  37. In recent years, the amount of genomic data produced in clinical genetics services has increased significantly due to the advent of next-generation sequencing. This influx of genomic information leads to conti...
    Authors:Julia El Mecky, Lennart Johansson, Mirjam Plantinga, Angela Fenwick, Anneke Lucassen, Trijnie Dijkhuizen, Annemieke van der Hout, Kate Lyle and Irene van Langen
    Citation:BMC Medical Genomics 2019 12:170
    Content type:Research article
    Published on: 
  38. Psoriasis is a chronic inflammatory skin disease characterized by hyperproliferation and abnormal differentiation of keratinocytes. It is one of the most prevalent chronic inflammatory skin conditions in adult...
    Authors:Liviu-Ionut Moldovan, Thomas Birkballe Hansen, Morten Trillingsgaard Venø, Trine Line Hauge Okholm, Thomas Levin Andersen, Henrik Hager, Lars Iversen, Jørgen Kjems, Claus Johansen and Lasse Sommer Kristensen
    Citation:BMC Medical Genomics 2019 12:174
    Content type:Research article
    Published on: 
  39. Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants.
    Authors:Tanya Papaz, Eriskay Liston, Laura Zahavich, Dimitri J. Stavropoulos, Rebekah K. Jobling, Raymond H. Kim, Miriam Reuter, Anastasia Miron, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F. Smythe, Luis Altamirano-Diaz, Jane Lougheed, Roderick Yao, Oyediran Akinrinade…
    Citation:BMC Medical Genomics 2019 12:173
    Content type:Research article
    Published on: 
  40. Immune escape is one of the hallmarks of cancer and several new treatment approaches attempt to modulate and restore the immune system’s capability to target cancer cells. At the heart of the immune recognitio...
    Authors:Eric Blanc, Manuel Holtgrewe, Arunraj Dhamodaran, Clemens Messerschmidt, Gerald Willimsky, Thomas Blankenstein and Dieter Beule
    Citation:BMC Medical Genomics 2019 12:171
    Content type:Research Article
    Published on: 
  41. Following publication of the original article [1], the authors provided an updated accession number in the “Availability of data and materials” section of the declarations.
    Authors:Margaret M. Parker, Robert P. Chase, Andrew Lamb, Alejandro Reyes, Aabida Saferali, Jeong H. Yun, Blanca E. Himes, Edwin K. Silverman, Craig P. Hersh and Peter J. Castaldi
    Citation:BMC Medical Genomics 2019 12:166
    Content type:Correction
    Published on: 
    The original article was published in BMC Medical Genomics 2017 10:58
  42. Previously developed classifications of glioma have provided enormous advantages for the diagnosis and treatment of glioma. Although the role of alternative splicing (AS) in cancer, especially in glioma, has b...
    Authors:Yaomin Li, Zhonglu Ren, Yuping Peng, Kaishu Li, Xiran Wang, Guanglong Huang, Songtao Qi and Yawei Liu
    Citation:BMC Medical Genomics 2019 12:165
    Content type:Research article
    Published on: 

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