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  1. Copy Number variation (CNVs) in genes related to drug absorption, distribution, metabolism and excretion (ADME) are relevant in the interindividual variability of drug response. Studies of the CNVs in ADME gen...

    Authors: Brian Ramírez, María José Niño-Orrego, Daniel Cárdenas, Kevin Enrique Ariza, Karol Quintero, Nora Constanza Contreras Bravo, Caroll Tamayo-Agudelo, María Alejandra González, Paul Laissue and Dora Janeth Fonseca Mendoza

    Citation: BMC Medical Genomics 2019 12:110

    Content type: Research article

    Published on:

  2. In genome-wide association studies (GWASs), meta-analysis has been widely used to improve statistical power by combining the results of different studies. Meta-analysis can detect phenotype associated variants...

    Authors: Jieun Ka, Jaehoon Lee, Yongkang Kim, Bermseok Oh and Taesung Park

    Citation: BMC Medical Genomics 2019 12(Suppl 5):102

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 5

  3. Gene Expression database of Normal and Tumor tissues 2 (GENT2) is an updated version of GENT, which has provided a user-friendly search platform for gene expression patterns across different normal and tumor t...

    Authors: Seung-Jin Park, Byoung-Ha Yoon, Seon-Kyu Kim and Seon-Young Kim

    Citation: BMC Medical Genomics 2019 12(Suppl 5):101

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 5

  4. Recent large-scale genetic studies often involve clustered phenotypes such as repeated measurements. Compared to a series of univariate analyses of single phenotypes, an analysis of clustered phenotypes can be...

    Authors: Sungyoung Lee, Sunmee Kim, Yongkang Kim, Bermseok Oh, Heungsun Hwang and Taesung Park

    Citation: BMC Medical Genomics 2019 12(Suppl 5):100

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 5

  5. CoMut plot is widely used in cancer research publications as a visual summary of mutational landscapes in cancer cohorts. This summary plot can inspect gene mutation rate and sample mutation burden with their ...

    Authors: Po-Jung Huang, Hou-Hsien Lin, Chi-Ching Lee, Ling-Ya Chiu, Shao-Min Wu, Yuan-Ming Yeh, Petrus Tang, Cheng-Hsun Chiu, Ping-Chiang Lyu and Pei-Chien Tsai

    Citation: BMC Medical Genomics 2019 12(Suppl 5):99

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 5

  6. Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown.

    Authors: Junghyun Jung, Go Woon Kim, Byungjo Lee, Jong Wha J. Joo and Wonhee Jang

    Citation: BMC Medical Genomics 2019 12(Suppl 5):98

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 5

  7. Gene expression data is widely used for identifying subtypes of diseases such as cancer. Differentially expressed gene analysis and gene set enrichment analysis are widely used for identifying biological mecha...

    Authors: Sungjoon Park, Doyeong Hwang, Yoon Sun Yeo, Hyunggee Kim and Jaewoo Kang

    Citation: BMC Medical Genomics 2019 12(Suppl 5):97

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 5

  8. Gene expression profiling has benefited medicine by providing clinically relevant insights at the molecular candidate and systems levels. However, to adopt a more ‘precision’ approach that integrates individua...

    Authors: Samir Rachid Zaim, Colleen Kenost, Joanne Berghout, Francesca Vitali, Helen Hao Zhang and Yves A. Lussier

    Citation: BMC Medical Genomics 2019 12(Suppl 5):96

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 5

  9. Feature selection or scoring methods for the detection of biomarkers are essential in bioinformatics. Various feature selection methods have been developed for the detection of biomarkers, and several studies ...

    Authors: Sehee Wang, Hyun-Hwan Jeong and Kyung-Ah Sohn

    Citation: BMC Medical Genomics 2019 12(Suppl 5):95

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 5

  10. The analysis of integrated multi-omics data enables the identification of disease-related biomarkers that cannot be identified from a single omics profile. Although protein-level data reflects the cellular sta...

    Authors: Tae Rim Kim, Hyun-Hwan Jeong and Kyung-Ah Sohn

    Citation: BMC Medical Genomics 2019 12(Suppl 5):94

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 5

  11. Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic v...

    Authors: Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin…

    Citation: BMC Medical Genomics 2019 12:105

    Content type: Research article

    Published on:

  12. Different pathogenic germline mutations in the RET oncogene are identified in MEN 2, a hereditary syndrome characterized by medullary thyroid carcinoma (MTC) and other endocrine tumors. Although genetic predispos...

    Authors: Larissa V. Bim, Fábio C. P. Navarro, Flávia O. F. Valente, José V. Lima-Junior, Rosana Delcelo, Magnus R. Dias-da-Silva, Rui M. B. Maciel, Pedro A. F. Galante and Janete M. Cerutti

    Citation: BMC Medical Genomics 2019 12:104

    Content type: Research article

    Published on:

  13. Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumor characterized by numerous adenomatous colonic polyps that often lead to colon cancer. Although most patients with FAP harbored ger...

    Authors: Borahm Kim, Dongju Won, Mi Jang, Hoguen Kim, Jong Rak Choi, Tae Il Kim and Seung-Tae Lee

    Citation: BMC Medical Genomics 2019 12:103

    Content type: Research article

    Published on:

  14. Cleft palate (CP) is the second most common congenital birth defect; however, the relationship between CP-associated genes and epigenetic regulation remains largely unknown. In this study, we investigated the ...

    Authors: Akiko Suzuki, Aimin Li, Mona Gajera, Nada Abdallah, Musi Zhang, Zhongming Zhao and Junichi Iwata

    Citation: BMC Medical Genomics 2019 12:93

    Content type: Research article

    Published on:

  15. Patient-derived xenograft (PDX) models are in vivo models of human cancer that have been used for translational cancer research and therapy selection for individual patients. The Jackson Laboratory (JAX) PDX r...

    Authors: Xing Yi Woo, Anuj Srivastava, Joel H. Graber, Vinod Yadav, Vishal Kumar Sarsani, Al Simons, Glen Beane, Stephen Grubb, Guruprasad Ananda, Rangjiao Liu, Grace Stafford, Jeffrey H. Chuang, Susan D. Airhart, R. Krishna Murthy Karuturi, Joshy George and Carol J. Bult

    Citation: BMC Medical Genomics 2019 12:92

    Content type: Technical advance

    Published on:

  16. A normally developed placenta is integral to a successful pregnancy. Preeclampsia (PE) and intrauterine growth restriction (IUGR) are two common pregnancy related complications that maybe a result of abnormal ...

    Authors: Zain Awamleh, Gregory B. Gloor and Victor K. M. Han

    Citation: BMC Medical Genomics 2019 12:91

    Content type: Research article

    Published on:

  17. Acute myeloid leukemia (AML) is a disease with marked molecular heterogeneity and a high early death rate. Our aim was to investigate an integrated Gene expression, Mirna and miRNA-mRNA Interactions (GMI) sign...

    Authors: Mingguang Shi and Guofu Xu

    Citation: BMC Medical Genomics 2019 12:90

    Content type: Research article

    Published on:

  18. Gastric emptying is impaired in patients with gastroparesis whereas it is either unchanged or accelerated in obese individuals. The goal of the current study was to identify changes in gene expression in the s...

    Authors: B. Paul Herring, Meng Chen, Plamen Mihaylov, April M. Hoggatt, Anita Gupta, Attila Nakeeb, Jennifer N. Choi and John M. Wo

    Citation: BMC Medical Genomics 2019 12:89

    Content type: Research article

    Published on:

  19. Large granular lymphocyte (LGL) leukemia is an uncommon cancer characterized by sustained clonal proliferation of LGL cells. Antibodies reactive to retroviruses have been documented in the serum of patients wi...

    Authors: Weiling Li, Lei Yang, Robert S. Harris, Lin Lin, Thomas L. Olson, Cait E. Hamele, David J. Feith, Thomas P. Loughran Jr and Mary Poss

    Citation: BMC Medical Genomics 2019 12:88

    Content type: Research article

    Published on:

  20. The availability and generation of large amounts of genomic data has led to the development of a new paradigm in cancer treatment emphasizing a precision approach at the molecular and genomic level. Statistica...

    Authors: Joshua D. Mannheimer, Dawn L. Duval, Ashok Prasad and Daniel L. Gustafson

    Citation: BMC Medical Genomics 2019 12:87

    Content type: Research article

    Published on:

  21. RNA-seq is poised to play a major role in the management of kidney transplant patients. Rigorous definition of housekeeping genes (HKG) is essential for further progress in this field. Using single genes or a ...

    Authors: Zijie Wang, Zili Lyu, Ling Pan, Gang Zeng and Parmjeet Randhawa

    Citation: BMC Medical Genomics 2019 12:86

    Content type: Research article

    Published on:

  22. The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences res...

    Authors: Magdalena Pasińska, Rafał Adamczak, Anna Repczyńska, Ewelina Łazarczyk, Barbara Iskra, Agata Klaudia Runge and Olga Haus

    Citation: BMC Medical Genomics 2019 12:85

    Content type: Case report

    Published on:

  23. Germline mutations in the BRCA1 and BRCA2 genes predispose carriers to breast and ovarian cancer, and there remains a need to identify the specific genomic mechanisms by which cancer evolves in these patients....

    Authors: Avantika Lal, Daniele Ramazzotti, Ziming Weng, Keli Liu, James M. Ford and Arend Sidow

    Citation: BMC Medical Genomics 2019 12:84

    Content type: Research article

    Published on:

  24. The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. The underlying mechanisms include epimutations, uniparental disomy...

    Authors: Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia Böck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani and Thomas Haaf

    Citation: BMC Medical Genomics 2019 12:83

    Content type: Case report

    Published on:

  25. Ultra-Deep Sequencing (UDS) enabled identification of specific changes in human genome occurring in malignant tumors, with current approaches calling for the detection of specific mutations associated with cer...

    Authors: David S. Campo, Vishal Nayak, Ganesh Srinivasamoorthy and Yury Khudyakov

    Citation: BMC Medical Genomics 2019 12(Suppl 4):74

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 4

  26. Genetic diversity is greatest within Africa, in particular the KhoeSan click-speaking peoples of southern Africa. South African populations represent admixture fractions including differing degrees of African,...

    Authors: Desiree C. Petersen, Weerachai Jaratlerdsiri, Abraham van Wyk, Eva K. F. Chan, Pedro Fernandez, Ruth J. Lyons, Shingai B. A. Mutambirw, Andre van der Merwe, Philip A. Venter, William Bates, M. S. Riana Bornman and Vanessa M. Hayes

    Citation: BMC Medical Genomics 2019 12:82

    Content type: Research article

    Published on:

  27. Targeted next-generation sequencing (NGS) enables rapid identification of common and rare genetic variation. The detection of variants contributing to therapeutic drug response or adverse effects is essential ...

    Authors: Markus Gulilat, Tyler Lamb, Wendy A. Teft, Jian Wang, Jacqueline S. Dron, John F. Robinson, Rommel G. Tirona, Robert A. Hegele, Richard B. Kim and Ute I. Schwarz

    Citation: BMC Medical Genomics 2019 12:81

    Content type: Technical advance

    Published on:

  28. Clinical data identified an association between the use of HMG-CoA reductase inhibitors (statins) and incident diabetes in patients with underlying diabetes risk factors such as obesity, hypertension and dysli...

    Authors: Daniel Margerie, Philippe Lefebvre, Violeta Raverdy, Uwe Schwahn, Hartmut Ruetten, Philip Larsen, Alain Duhamel, Julien Labreuche, Dorothée Thuillier, Bruno Derudas, Céline Gheeraert, Hélène Dehondt, Quentin Dhalluin, Jérémy Alexandre, Robert Caiazzo, Pamela Nesslany…

    Citation: BMC Medical Genomics 2019 12:80

    Content type: Research article

    Published on:

  29. Intra-tumor heterogeneity stems from genetic, epigenetic, functional, and environmental differences among tumor cells. A major source of genetic heterogeneity comes from DNA sequence differences and/or whole c...

    Authors: Yanding Zhao, Robert Carter, Sivaraman Natarajan, Frederick S. Varn, Duane A. Compton, Charles Gawad, Chao Cheng and Kristina M. Godek

    Citation: BMC Medical Genomics 2019 12:79

    Content type: Research article

    Published on:

  30. Presently, a 50-gene expression model (PAM50) serves as a breast cancer (BC) subtype classifier that is insufficient to distinguish, within each single PAM50-classified subtype, patient subpopulations having d...

    Authors: J. Astor Ankney, Ling Xie, John A. Wrobel, Li Wang and Xian Chen

    Citation: BMC Medical Genomics 2019 12:78

    Content type: Technical advance

    Published on:

  31. The co-occurrence of multiple de novo copy number variations (CNVs) is a rare phenomenon in the human genome. Recently, an “organismal CNV mutator phenotype” has been reported to result in transient genomic in...

    Authors: Atsushi Hattori, Kohji Okamura, Yumiko Terada, Rika Tanaka, Yuko Katoh-Fukui, Yoichi Matsubara, Keiko Matsubara, Masayo Kagami, Reiko Horikawa and Maki Fukami

    Citation: BMC Medical Genomics 2019 12:77

    Content type: Research article

    Published on:

  32. Congenital hearing loss affects approximately 1–2 infants out of every 1000, with 50% of the cases resulting from genetic factors. Targeted gene panels have been widely used for genetic diagnosis of hearing lo...

    Authors: Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou and Zhiyu Peng

    Citation: BMC Medical Genomics 2019 12:76

    Content type: Research article

    Published on:

  33. Obesity has been associated with gene methylation regulation. Recent studies have shown that epigenetic signature plays a role in metabolic homeostasis after Roux-en Y gastric bypass (RYGB). To conduct a genom...

    Authors: C. F. Nicoletti, M. A. S. Pinhel, A. Diaz-Lagares, F. F. Casanueva, A. Jácome, V. C. Pinhanelli, B. A. P. de Oliveira, A. B. Crujeiras and C. B. Nonino

    Citation: BMC Medical Genomics 2019 12:72

    Content type: Research article

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  34. Tick-borne encephalitis (TBE) is a viral infectious disease caused by tick-borne encephalitis virus (TBEV). TBEV infection is responsible for a variety of clinical manifestations ranging from mild fever to sev...

    Authors: Elena V. Ignatieva, Andrey A. Yurchenko, Mikhail I. Voevoda and Nikolay S. Yudin

    Citation: BMC Medical Genomics 2019 12(Suppl 3):61

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 12 Supplement 3

  35. The etiology of cleft lip with or without cleft palate (CL/P), a common congenital birth defect, is complex and involves the contribution of genetic and environmental factors. Although many candidate genes hav...

    Authors: Mona Gajera, Neha Desai, Akiko Suzuki, Aimin Li, Musi Zhang, Goo Jun, Peilin Jia, Zhongming Zhao and Junichi Iwata

    Citation: BMC Medical Genomics 2019 12:70

    Content type: Research article

    Published on:

  36. The ability to generate recombinant drug target proteins is important for drug discovery research as it facilitates the investigation of drug-target-interactions in vitro. To accomplish this, the target’s exac...

    Authors: Julia F. Söllner, Germán Leparc, Matthias Zwick, Tanja Schönberger, Tobias Hildebrandt, Kay Nieselt and Eric Simon

    Citation: BMC Medical Genomics 2019 12:69

    Content type: Research article

    Published on:

  37. Mexico is among the countries showing the highest heterogeneity of CFTR variants. However, no de novo variants have previously been reported in Mexican patients with cystic fibrosis (CF).

    Authors: Angélica Martínez-Hernández, Julieta Larrosa, Francisco Barajas-Olmos, Humberto García-Ortíz, Elvia C. Mendoza-Caamal, Cecilia Contreras-Cubas, Elaheh Mirzaeicheshmeh, José Luis Lezana and Lorena Orozco

    Citation: BMC Medical Genomics 2019 12:68

    Content type: Case report

    Published on:

  38. Chemoresistance is a primary clinical challenge for the management of small cell lung cancer. Additionally, transcriptional regulation by super enhancer (SE) has an important role in tumor evolution. The funct...

    Authors: Jiarong Bao, Man Li, Shumei Liang, Yunchu Yang, Jingfang Wu, Qingqing Zou, Shun Fang, Size Chen and Linlang Guo

    Citation: BMC Medical Genomics 2019 12:67

    Content type: Research article

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  39. In cystic fibrosis (CF), impaired immune cell responses, driven by the dysfunctional CF transmembrane conductance regulator (CFTR) gene, may determine the disease severity but clinical heterogeneity remains a maj...

    Authors: Justin E. Ideozu, Vittobai Rangaraj, Hiam Abdala-Valencia, Xi Zhang, Manoj Kandpal, Marc A. Sala, Ramana V. Davuluri and Hara Levy

    Citation: BMC Medical Genomics 2019 12:66

    Content type: Research article

    Published on:

  40. Following publication of the original article [1], the authors reported that Fig. 1 was not correctly processed during the production process. The correct Fig. 1 is given below.

    Authors: Jason E. Miller, Raghu P. Metpally, Thomas N. Person, Sarathbabu Krishnamurthy, Venkata Ramesh Dasari, Manu Shivakumar, Daniel R. Lavage, Adam M. Cook, David J. Carey, Marylyn D. Ritchie, Dokyoon Kim and Radhika Gogoi

    Citation: BMC Medical Genomics 2019 12:65

    Content type: Correction

    Published on:

    The original article was published in BMC Medical Genomics 2019 12:59

  41. Somatic mutations in cancer genomes occur through a variety of molecular mechanisms, which contribute to different mutational patterns. To summarize these, mutational signatures have been defined using a large...

    Authors: Calvin Wing Yiu Chan, Zuguang Gu, Matthias Bieg, Roland Eils and Carl Herrmann

    Citation: BMC Medical Genomics 2019 12:64

    Content type: Research article

    Published on:

  42. The accurate screening of tumor genomic landscapes for somatic mutations using high-throughput sequencing involves a crucial step in precise clinical diagnosis and targeted therapy. However, the complex inhere...

    Authors: Irantzu Anzar, Angelina Sverchkova, Richard Stratford and Trevor Clancy

    Citation: BMC Medical Genomics 2019 12:63

    Content type: Research article

    Published on:

  43. Pancreatic and biliary tract cancer (PC and BTC, respectively) are difficult to diagnose because of their clinical characteristics; however, recent studies suggest that serum microRNAs (miRNAs) might be the ke...

    Authors: Kwondo Kim, DongAhn Yoo, Hee Seung Lee, Kyong Joo Lee, Soo Been Park, Chanyang Kim, Jung Hyun Jo, Dawoon E. Jung and Si Young Song

    Citation: BMC Medical Genomics 2019 12:62

    Content type: Research article

    Published on:

  44. Transcriptome wide changes have been assessed extensively during the progression of neurodegenerative diseases. Alternative polyadenylation (APA) occurs in over 70% of human protein coding genes and it has rec...

    Authors: Radhika Patel, Cillian Brophy, Mark Hickling, Jonathan Neve and André Furger

    Citation: BMC Medical Genomics 2019 12:60

    Content type: Research article

    Published on:

  45. Endometrial cancer (EMCA) is the fifth most common cancer among women in the world. Identification of potentially pathogenic germline variants from individuals with EMCA will help characterize genetic features...

    Authors: Jason E. Miller, Raghu P. Metpally, Thomas N. Person, Sarathbabu Krishnamurthy, Venkata Ramesh Dasari, Manu Shivakumar, Daniel R. Lavage, Adam M. Cook, David J. Carey, Marylyn D. Ritchie, Dokyoon Kim and Radhika Gogoi

    Citation: BMC Medical Genomics 2019 12:59

    Content type: Research article

    Published on:

    The Correction to this article has been published in BMC Medical Genomics 2019 12:65

  46. Human Endogenous Retroviruses type K HML-2 (HK2) are integrated into 117 or more areas of human chromosomal arms while two newly discovered HK2 proviruses, K111 and K222, spread extensively in pericentromeric ...

    Authors: Mark H. Kaplan, Mark Kaminski, Judith M. Estes, Scott D. Gitlin, Joseph Zahn, James T. Elder, Trilokraj Tejasvi, Elizabeth Gensterblum, Amr H. Sawalha, Joseph Patrick McGowan, Michael H. Dosik, Haner Direskeneli, Guher Saruhan Direskeneli, Sally N. Adebamowo, Clement A. Adebamowo, Mohammad Sajadi…

    Citation: BMC Medical Genomics 2019 12:58

    Content type: Research article

    Published on:

  47. To explore long-non-coding RNA (lncRNA), microRNA (miRNA) and messenger RNA (mRNA) expression profiles and their biological functions in the urine samples in calcium oxalate (CaOx) patients.

    Authors: Xiongfa Liang, Yongchang Lai, Weizhou Wu, Dong Chen, Fangling Zhong, Jian Huang, Tao Zeng, Xiaolu Duan, Yapeng Huang, Shike Zhang, Shujue Li and Wenqi Wu

    Citation: BMC Medical Genomics 2019 12:57

    Content type: Research article

    Published on:

2019 Journal Metrics

Announcement

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.