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  1. 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

    Published on:

  2. 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

    Published on:

  3. 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

    Published on:

  5. 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

    Published on:

  6. 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:

  8. 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

    Published on:

  9. 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:

  10. 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:

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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:

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  32. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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

    Published on:

  37. 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:

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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:

  44. 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

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:

  50. 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:

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