Skip to main content

Articles

Page 30 of 48

  1. Breast cancer is the most common type of invasive cancer in woman. It accounts for approximately 18% of all cancer deaths worldwide. It is well known that somatic mutation plays an essential role in cancer dev...

    Authors: Yifan Zhang, William Yang, Dan Li, Jack Y Yang, Renchu Guan and Mary Qu Yang
    Citation: BMC Medical Genomics 2018 11(Suppl 5):104
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 5

  2. While continental level ancestry is relatively simple using genomic information, distinguishing between individuals from closely associated sub-populations (e.g., from the same continent) is still a difficult ...

    Authors: Tanjin T. Toma, Jeremy M. Dawson and Donald A. Adjeroh
    Citation: BMC Medical Genomics 2018 11(Suppl 5):0
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 5

  3. The integration of high-quality, genome-wide analyses offers a robust approach to elucidating genetic factors involved in complex human diseases. Even though several methods exist to integrate heterogeneous om...

    Authors: Haley R. Eidem, Jacob L. Steenwyk, Jennifer H. Wisecaver, John A. Capra, Patrick Abbot and Antonis Rokas
    Citation: BMC Medical Genomics 2018 11:107
    Content type: Technical advance Published on:

  4. Recent large-scale cancer sequencing studies have discovered many novel cancer driver genes (CDGs) in human cancers. Some studies also suggest that CDG mutations contribute to cancer-associated epigenomic and ...

    Authors: Ahrim Youn, Kyung In Kim, Raul Rabadan, Benjamin Tycko, Yufeng Shen and Shuang Wang
    Citation: BMC Medical Genomics 2018 11:98
    Content type: Research article Published on:

  5. BAP1 is a histone deubiquitinase that acts as a tumor and metastasis suppressor associated with disease progression in human cancer. We have used the “Calling Card System” of transposase-directed transposon in...

    Authors: Matthew Yen, Zongtai Qi, Xuhua Chen, John A. Cooper, Robi D. Mitra and Michael D. Onken
    Citation: BMC Medical Genomics 2018 11:97
    Content type: Research article Published on:

  6. Glioblastoma multiforme, the most prevalent and aggressive brain tumour, has a poor prognosis. The molecular mechanisms underlying gliomagenesis remain poorly understood. Therefore, molecular research, includi...

    Authors: Pengfei Xu, Jian Yang, Junhui Liu, Xue Yang, Jianming Liao, Fanen Yuan, Yang Xu, Baohui Liu and Qianxue Chen
    Citation: BMC Medical Genomics 2018 11:96
    Content type: Research article Published on:

  7. Nucleotide Excision Repair (NER) is a major pathway of mammalian DNA repair that is associated with drug resistance and has not been well characterized in acute lymphoblastic leukemia (ALL). The objective of t...

    Authors: Omar M. Ibrahim, Homood M. As Sobeai, Stephen G. Grant and Jean J. Latimer
    Citation: BMC Medical Genomics 2018 11:95
    Content type: Database Published on:

  9. Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal...

    Authors: Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham…
    Citation: BMC Medical Genomics 2018 11:93
    Content type: Research article Published on:

  10. Verheij syndrome is a rare microdeletion syndrome of chromosome 8q24.3 that harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss of function mutations in PUF60 have been found in children with clinical featu...

    Authors: Qiong Xu, Chun-yang Li, Yi Wang, Hui-ping Li, Bing-bing Wu, Yong-hui Jiang and Xiu Xu
    Citation: BMC Medical Genomics 2018 11:92
    Content type: Case report Published on:

  11. Detection of copy number variants (CNVs) is an important aspect of clinical testing for several disorders, including Duchenne muscular dystrophy, and is often performed using multiplex ligation-dependent probe...

    Authors: Velina Kozareva, Clayton Stroff, Maxwell Silver, Jonathan F. Freidin and Nigel F. Delaney
    Citation: BMC Medical Genomics 2018 11:91
    Content type: Technical advance Published on:

  12. Noninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations. Hig...

    Authors: Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty and Dale Muzzey
    Citation: BMC Medical Genomics 2018 11:90
    Content type: Research article Published on:

  14. Logistic regression is a popular technique used in machine learning to construct classification models. Since the construction of such models is based on computing with large datasets, it is an appealing idea ...

    Authors: Charlotte Bonte and Frederik Vercauteren
    Citation: BMC Medical Genomics 2018 11(Suppl 4):86
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 4

  16. Practical applications for data analysis may require combining multiple databases belonging to different owners, such as health centers. The analysis should be performed without violating privacy of neither th...

    Authors: Peeter Laud and Alisa Pankova
    Citation: BMC Medical Genomics 2018 11(Suppl 4):84
    Content type: Technical advance Published on:

    This article is part of a Supplement: Volume 11 Supplement 4

  17. Security concerns have been raised since big data became a prominent tool in data analysis. For instance, many machine learning algorithms aim to generate prediction models using training data which contain se...

    Authors: Andrey Kim, Yongsoo Song, Miran Kim, Keewoo Lee and Jung Hee Cheon
    Citation: BMC Medical Genomics 2018 11(Suppl 4):83
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 4

  18. One of the 3 tracks of iDASH Privacy & Security Workshop 2017 competition was to execute a whole genome variants search on private genomic data. Particularly, the search application was to find the top most si...

    Authors: Sergiu Carpov and Thibaud Tortech
    Citation: BMC Medical Genomics 2018 11(Suppl 4):82
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 4

  19. One of the tasks in the 2017 iDASH secure genome analysis competition was to enable training of logistic regression models over encrypted genomic data. More precisely, given a list of approximately 1500 patien...

    Authors: Hao Chen, Ran Gilad-Bachrach, Kyoohyung Han, Zhicong Huang, Amir Jalali, Kim Laine and Kristin Lauter
    Citation: BMC Medical Genomics 2018 11(Suppl 4):81
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 4

  20. Bladder cancer has numerous genomic features that are potentially actionable by targeted agents. Nevertheless, both pre-clinical and clinical research using molecular targeted agents have been very limited in ...

    Authors: Adnan Ahmad Ansari, Inkeun Park, Inki Kim, Sojung Park, Sung-Min Ahn and Jae-lyun Lee
    Citation: BMC Medical Genomics 2018 11:88
    Content type: Database Published on:

  21. Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain ...

    Authors: Anna Pichiecchio, Giovanni Vitale, Camilla Caporali, Cecilia Parazzini, Donatella Milani, Maria Paola Recalcati, Laura D’Amico, Sabrina Signorini, Umberto Balottin and Stefano Bastianello
    Citation: BMC Medical Genomics 2018 11:87
    Content type: Case report Published on:

  22. The transition from ductal carcinoma in situ (DCIS) to invasive breast carcinoma (IBC) is an important step during breast carcinogenesis. Understanding its molecular changes may help to identify high-risk DCIS...

    Authors: Silke Schultz, Harald Bartsch, Karl Sotlar, Karina Petat-Dutter, Michael Bonin, Steffen Kahlert, Nadia Harbeck, Ulrich Vogel, Harald Seeger, Tanja Fehm and Hans J. Neubauer
    Citation: BMC Medical Genomics 2018 11:80
    Content type: Research article Published on:

  23. Alzheimer’s disease (AD) is one of the most common neurodegenerative diseases that causes problems related to brain function. To some extent it is understood on a molecular level how AD arises, however there a...

    Authors: Jason E. Miller, Manu K. Shivakumar, Younghee Lee, Seonggyun Han, Emrin Horgousluoglu, Shannon L. Risacher, Andrew J. Saykin, Kwangsik Nho and Dokyoon Kim
    Citation: BMC Medical Genomics 2018 11(Suppl 3):76
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  24. Understanding the effect of human genetic variations on disease can provide insight into phenotype-genotype relationships, and has great potential for improving the effectiveness of personalized medicine. Whil...

    Authors: Ann G. Cirincione, Kaylyn L. Clark and Maricel G. Kann
    Citation: BMC Medical Genomics 2018 11(Suppl 3):75
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  25. Large-scale collaborative precision medicine initiatives (e.g., The Cancer Genome Atlas (TCGA)) are yielding rich multi-omics data. Integrative analyses of the resulting multi-omics data, such as somatic mutat...

    Authors: Yasser EL-Manzalawy, Tsung-Yu Hsieh, Manu Shivakumar, Dokyoon Kim and Vasant Honavar
    Citation: BMC Medical Genomics 2018 11(Suppl 3):71
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  26. Glaucoma is a leading cause of blindness in developed countries. Primary open-angle glaucoma (POAG), the most prevalent clinical subtype of glaucoma in the United States, affects African Americans at a higher ...

    Authors: Nicole A. Restrepo, Sarah M. Laper, Eric Farber-Eger and Dana C. Crawford
    Citation: BMC Medical Genomics 2018 11(Suppl 3):70
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  27. Integrative analysis on multi-omics data has gained much attention recently. To investigate the interactive effect of gene expression and DNA methylation on cancer, we propose a directed random walk-based appr...

    Authors: So Yeon Kim, Tae Rim Kim, Hyun-Hwan Jeong and Kyung-Ah Sohn
    Citation: BMC Medical Genomics 2018 11(Suppl 3):68
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  28. RNA-seq is the most commonly used sequencing application. Not only does it measure gene expression but it is also an excellent media to detect important structural variants such as single nucleotide variants (...

    Authors: Naresh Prodduturi, Aditya Bhagwate, Jean-Pierre A. Kocher and Zhifu Sun
    Citation: BMC Medical Genomics 2018 11(Suppl 3):67
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  29. High levels of triglycerides (TG ≥200 mg/dL) are an emerging risk factor for cardiovascular disease. Conversely, very low levels of TG are associated with decreased risk for cardiovascular disease. Precision m...

    Authors: Dana C. Crawford, Nicole A. Restrepo, Kirsten E. Diggins, Eric Farber-Eger and Quinn S. Wells
    Citation: BMC Medical Genomics 2018 11(Suppl 3):66
    Content type: Research Published on:

    This article is part of a Supplement: Volume 11 Supplement 3

  31. CRISPR/CAS9 (epi)genome editing revolutionized the field of gene and cell therapy. Our previous study demonstrated that a rapid and robust reactivation of the HIV latent reservoir by a catalytically-deficient ...

    Authors: Yonggang Zhang, Gustavo Arango, Fang Li, Xiao Xiao, Raj Putatunda, Jun Yu, Xiao-Feng Yang, Hong Wang, Layne T. Watson, Liqing Zhang and Wenhui Hu
    Citation: BMC Medical Genomics 2018 11:78
    Content type: Research article Published on:

  32. Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common f...

    Authors: Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel and Sally J. Dawson
    Citation: BMC Medical Genomics 2018 11:77
    Content type: Research article Published on:

  34. Lymph node metastasis is one of the most important prognostic factors in head and neck squamous cell carcinomas (HNSCCs) and critical for delineating their treatment. However, clinical and histological criteri...

    Authors: Alessandra Vidotto, Giovana M. Polachini, Marina de Paula-Silva, Sonia M. Oliani, Tiago Henrique, Rossana V. M. López, Patrícia M. Cury, Fabio D. Nunes, José F. Góis-Filho, Marcos B. de Carvalho, Andréia M. Leopoldino and Eloiza H. Tajara
    Citation: BMC Medical Genomics 2018 11:73
    Content type: Research article Published on:

  35. Moyamoya disease (MMD) is characterized by progressive stenosis of intracranial arteries in the circle of Willis with unknown etiology even after the identification of a Moyamoya susceptible gene, RNF213. Rece...

    Authors: Haruto Uchino, Masaki Ito, Ken Kazumata, Yuka Hama, Shuji Hamauchi, Shunsuke Terasaka, Hidenao Sasaki and Kiyohiro Houkin
    Citation: BMC Medical Genomics 2018 11:72
    Content type: Research article Published on:

  36. Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in ph...

    Authors: Magdalena Pasińska, Ewelina Łazarczyk, Katarzyna Jułga, Magdalena Bartnik-Głaska, Beata Nowakowska and Olga Haus
    Citation: BMC Medical Genomics 2018 11:69
    Content type: Case report Published on:

  37. Matched tumor-normal sequencing, applied in precision cancer medicine, can identify unidentified germline Medically Actionable Variants (gMAVS) in cancer predisposition genes. We report patient preferences for...

    Authors: Neda Stjepanovic, Tracy L. Stockley, Philippe L. Bedard, Jeanna M. McCuaig, Melyssa Aronson, Spring Holter, Kara Semotiuk, Natasha B. Leighl, Raymond Jang, Monika K. Krzyzanowska, Amit M. Oza, Abha Gupta, Christine Elser, Lailah Ahmed, Lisa Wang, Suzanne Kamel-Reid…
    Citation: BMC Medical Genomics 2018 11:65
    Content type: Research article Published on:

  38. Gestational diabetes (GDM) is a more common problem in India than in many other parts of the world but it is not known whether this is due to unique environmental factors or a unique genetic background. To add...

    Authors: Geeti P. Arora, Peter Almgren, Charlotte Brøns, Richa G. Thaman, Allan A. Vaag, Leif Groop and Rashmi B. Prasad
    Citation: BMC Medical Genomics 2018 11:64
    Content type: Research article Published on:

  39. The Cancer Genome Atlas (TCGA) is an important data resource for cancer biologists and oncologists. However, a lack of bioinformatics expertise often hinders experimental cancer biologists and oncologists from...

    Authors: Qingrong Sun, Mengyuan Li and Xiaosheng Wang
    Citation: BMC Medical Genomics 2018 11:63
    Content type: Database Published on:

    The Correction to this article has been published in BMC Medical Genomics 2018 11:74

  40. Cellular changes described in human gastroparesis have revealed a role for immune dysregulation, however, a mechanistic understanding of human gastroparesis and the signaling pathways involved are still unclear.

    Authors: Madhusudan Grover, Simon J. Gibbons, Asha A. Nair, Cheryl E. Bernard, Adeel S. Zubair, Seth T. Eisenman, Laura A. Wilson, Laura Miriel, Pankaj J. Pasricha, Henry P. Parkman, Irene Sarosiek, Richard W. McCallum, Kenneth L. Koch, Thomas L. Abell, William J. Snape, Braden Kuo…
    Citation: BMC Medical Genomics 2018 11:62
    Content type: Research article Published on:

  41. Giant cell arteritis (GCA) is the most common form of vasculitis affecting elderly people. It is one of the few true ophthalmic emergencies but symptoms and signs are variable thereby making it a challenging d...

    Authors: Elisabeth De Smit, Samuel W. Lukowski, Lisa Anderson, Anne Senabouth, Kaisar Dauyey, Sharon Song, Bruce Wyse, Lawrie Wheeler, Christine Y. Chen, Khoa Cao, Amy Wong Ten Yuen, Neil Shuey, Linda Clarke, Isabel Lopez Sanchez, Sandy S. C. Hung, Alice Pébay…
    Citation: BMC Medical Genomics 2018 11:61
    Content type: Research article Published on:

  42. The proto-oncogene KRAS performs an essential function in normal tissue signaling, and the mutation of KRAS gene is a key step in the development of many cancers. Somatic KRAS mutations are often detected in p...

    Authors: Ruen Yao, Tingting Yu, Yufei Xu, Guoqiang Li, Lei Yin, Yunfang Zhou, Jian Wang and Zhilong Yan
    Citation: BMC Medical Genomics 2018 11:60
    Content type: Case report Published on:

  43. Elevated blood pressure is an important risk factor for cardiovascular disease and is also an important factor in global mortality. Military pilots are at high risk of cardiovascular disease because they under...

    Authors: Xing-Cheng Zhao, Shao-Hua Yang, Yi-Quan Yan, Xin Zhang, Lin Zhang, Bo Jiao, Shuai Jiang and Zhi-Bin Yu
    Citation: BMC Medical Genomics 2018 11:59
    Content type: Research article Published on:

  44. Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accur...

    Authors: Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell…
    Citation: BMC Medical Genomics 2018 11:58
    Content type: Research article Published on:

  45. One of the major goals of genomic medicine is the identification of causal genomic variants in a patient and their relation to the observed clinical phenotypes. Prioritizing the genomic variants by considering...

    Authors: Aditya Rao, Saipradeep VG, Thomas Joseph, Sujatha Kotte, Naveen Sivadasan and Rajgopal Srinivasan
    Citation: BMC Medical Genomics 2018 11:57
    Content type: Research article Published on:

  46. Cerebral palsy (CP) is the leading cause of motor disability in children; however, its pathogenesis is unknown in most cases. Growing evidence suggests that Nitric oxide synthase 1 (NOS1) is involved in neural...

    Authors: Ting Yu, Lei Xia, Dan Bi, Yangong Wang, Qing Shang, Dengna Zhu, Juan Song, Yong Wang, Xiaoyang Wang, Changlian Zhu and Qinghe Xing
    Citation: BMC Medical Genomics 2018 11:56
    Content type: Research article Published on:

  47. Recently, 34 genes had been associated with differential expression relative to blood pressure (BP)/ hypertension (HTN). We hypothesize that some of the genes associated with BP/HTN are also associated with BP...

    Authors: Ana Caroline C. Sá, Amy Webb, Yan Gong, Caitrin W. McDonough, Mohamed H. Shahin, Somnath Datta, Taimour Y. Langaee, Stephen T. Turner, Amber L. Beitelshees, Arlene B. Chapman, Eric Boerwinkle, John G. Gums, Steven E. Scherer, Rhonda M. Cooper-DeHoff, Wolfgang Sadee and Julie A. Johnson
    Citation: BMC Medical Genomics 2018 11:55
    Content type: Research article Published on:

  48. Common metabolic diseases, including type 2 diabetes, coronary artery disease, and hypertension, arise from disruptions of the body’s metabolic homeostasis, with relatively strong contributions from genetic ri...

    Authors: Hyung Jun Woo and Jaques Reifman
    Citation: BMC Medical Genomics 2018 11:54
    Content type: Research article Published on:

  50. Generalized pustular psoriasis (GPP) is a rare, episodic, potentially life-threatening inflammatory disease. However, the pathogenesis of GPP, and universally accepted therapies for treating it, remain undefined.

    Authors: Lingyan Wang, Xiaoling Yu, Chao Wu, Teng Zhu, Wenming Wang, Xiaofeng Zheng and Hongzhong Jin
    Citation: BMC Medical Genomics 2018 11:52
    Content type: Research article Published on:
Submit manuscript

Annual Journal Metrics

  • 2022 Citation Impact
    2.7 - 2-year Impact Factor
    3.2 - 5-year Impact Factor
    0.730 - SNIP (Source Normalized Impact per Paper)
    0.892 - SJR (SCImago Journal Rank)

    2023 Speed
    33 days submission to first editorial decision for all manuscripts (Median)
    164 days submission to accept (Median)

    2023 Usage 
    1,335,753 downloads
    593 Altmetric mentions 

Peer-review Terminology

  • The following summary describes the peer review process for this journal:

    Identity transparency: Single anonymized

    Reviewer interacts with: Editor

    Review information published: Review reports. Reviewer Identities reviewer opt in. Author/reviewer communication

    More information is available here

Follow

Sign up for article alerts and news from this journal

BMC Medical Genomics

ISSN: 1755-8794

Contact us