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Bioinformatic and algorithmical studies

This section considers studies on the development, refinement and application of novel computational and statistical methods for the analysis of genetic and genomic data for the study of human health and disease, as well as the application of population genetic approaches.

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  1. Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes...

    Authors: Lu Cao, Ruixue Zhang, Liang Yong, Shirui Chen, Hui Zhang, Weiwei Chen, Qiongqiong Xu, Huiyao Ge, Yiwen Mao, Qi Zhen, Yafen Yu, Xia Hu and Liangdan Sun

    Citation: BMC Medical Genomics 2021 14:168

    Content type: Research article

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  2. Bioinformatics was used to analyze the skin cutaneous melanoma (SKCM) gene expression profile to provide a theoretical basis for further studying the mechanism underlying metastatic SKCM and the clinical progn...

    Authors: Guoliang Jia, Zheyu Song, Zhonghang Xu, Youmao Tao, Yuanyu Wu and Xiaoyu Wan

    Citation: BMC Medical Genomics 2021 14:96

    Content type: Research article

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  3. RNA gene expression of renal transplantation biopsies is commonly used to identify the immunological patterns of graft rejection. Mostly done with microarrays, seminal findings defined the patterns of gene set...

    Authors: R. N. Smith

    Citation: BMC Medical Genomics 2021 14:86

    Content type: Research article

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  4. Traditionally, mutational burden and mutational signatures have been assessed by tumor-normal pair DNA sequencing. The requirement of having both normal and tumor samples is not always feasible from a clinical...

    Authors: Erik Jessen, Yuanhang Liu, Jaime Davila, Jean-Pierre Kocher and Chen Wang

    Citation: BMC Medical Genomics 2021 14:65

    Content type: Research article

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  5. Huntington's disease (HD) is one of the most common polyglutamine disorders, leading to progressive dyskinesia, cognitive impairment, and neuropsychological problems. Besides the dysregulation of many protein-...

    Authors: Xiaoping Tan, Yang Liu, Taiming Zhang and Shuyan Cong

    Citation: BMC Medical Genomics 2021 14:48

    Content type: Research article

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  6. Single-cell sequencing technologies provide unprecedented opportunities to deconvolve the genomic, transcriptomic or epigenomic heterogeneity of complex biological systems. Its application in samples from xeno...

    Authors: Stefano Cheloni, Roman Hillje, Lucilla Luzi, Pier Giuseppe Pelicci and Elena Gatti

    Citation: BMC Medical Genomics 2021 14:34

    Content type: Software

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  7. In biomedical applications, valuable data is often split between owners who cannot openly share the data because of privacy regulations and concerns. Training machine learning models on the joint data without ...

    Authors: Martine De Cock, Rafael Dowsley, Anderson C. A. Nascimento, Davis Railsback, Jianwei Shen and Ariel Todoki

    Citation: BMC Medical Genomics 2021 14:23

    Content type: Technical advance

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  8. Genetic testing allows patients and clinicians to understand the risk of hereditary diseases. By testing early, individuals can make informed medical decisions about management which may minimize the risk of d...

    Authors: Chethan Jujjavarapu, Jeevan Anandasakaran, Laura M. Amendola, Cameron Haas, Elizabeth Zampino, Nora B. Henrikson, Gail P. Jarvik and Sean D. Mooney

    Citation: BMC Medical Genomics 2021 14:10

    Content type: Software

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  9. Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders includin...

    Authors: Chun Pan, Xiaowei Zhou, Anlan Hong, Fang Fang and Yan Wang

    Citation: BMC Medical Genomics 2020 13:188

    Content type: Case report

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  10. Lung adenocarcinoma (LADC) is a major subtype of non-small cell lung cancer and has one of the highest mortality rates. An increasing number of long non-coding RNAs (LncRNAs) were reported to be associated wit...

    Authors: Wenyuan Zhao, Jun Wang, Qingxi Luo, Wei Peng, Bin Li, Lei Wang, Chunfang Zhang and Chaojun Duan

    Citation: BMC Medical Genomics 2020 13:185

    Content type: Research article

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  11. Obesity contributes to high cancer risk in humans and the mechanistic links between these two pathologies are not yet understood. Recent emerging evidence has associated obesity and cancer with metabolic abnor...

    Authors: Haluk Dogan, Jiang Shu, Zeynep Hakguder, Zheng Xu and Juan Cui

    Citation: BMC Medical Genomics 2020 13:161

    Content type: Technical advance

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  12. Despite being caused by mutations in different genes, diseases in the same phenotypic series are clinically similar, as reported in Part I of this study. Here, in Part II, we hypothesized that the phenotypic s...

    Authors: Alessio Gamba, Mario Salmona, Laura Cantù and Gianfranco Bazzoni

    Citation: BMC Medical Genomics 2020 13:139

    Content type: Research article

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  13. Drug resistance is a major obstacle to effective cancer therapy. In order to detect the change in tumor genomic states under drug selection pressure, we use next-generation sequencing technology to investigate...

    Authors: Zhou Tong, Cong Yan, Yu-An Dong, Ming Yao, Hangyu Zhang, Lulu Liu, Yi Zheng, Peng Zhao, Yimin Wang, Weijia Fang, Feifei Zhang and Weiqin Jiang

    Citation: BMC Medical Genomics 2020 13:138

    Content type: Research article

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  14. Type 2 diabetes mellitus (T2DM) is a complex multifactorial disease with a high prevalence worldwide. Insulin resistance and impaired insulin secretion are the two major abnormalities in the pathogenesis of T2...

    Authors: Maryam Khoshnejat, Kaveh Kavousi, Ali Mohammad Banaei-Moghaddam and Ali Akbar Moosavi-Movahedi

    Citation: BMC Medical Genomics 2020 13:119

    Content type: Research article

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  15. Parkinson’s Disease (PD) and Hutchinson-Gilford Progeria Syndrome (HGPS) are two heterogeneous disorders, which both display molecular and clinical alterations associated with the aging process. However, simil...

    Authors: Diana M. Hendrickx and Enrico Glaab

    Citation: BMC Medical Genomics 2020 13:114

    Content type: Research article

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  16. Atrial fibrillation (AF) is at least partially heritable, affecting 2–3% of the population in Europe and the USA. However, a substantial proportion of heritability is still lacking. In the present study, we ai...

    Authors: Junguo Zhang, Xin Huang, Xiaojie Wang, Yanhui Gao, Li Liu, Ziyi Li, Xuejiao Chen, Jie Zeng, Zebing Ye and Guowei Li

    Citation: BMC Medical Genomics 2020 13:104

    Content type: Research article

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  17. Research grade Fresh Frozen (FF) DNA material is not yet routinely collected in clinical practice. Many hospitals, however, collect and store Formalin Fixed Paraffin Embedded (FFPE) tumor samples. Consequently...

    Authors: Louise de Schaetzen van Brienen, Maarten Larmuseau, Kim Van der Eecken, Frederic De Ryck, Pauline Robbe, Anna Schuh, Jan Fostier, Piet Ost and Kathleen Marchal

    Citation: BMC Medical Genomics 2020 13:94

    Content type: Research article

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  18. Genetic associations link hematopoietic traits and disease end-points, but most causal variants and genes underlying these relationships are unknown. Here, we used genetic colocalization to nominate loci and g...

    Authors: Christopher S. Thom and Benjamin F. Voight

    Citation: BMC Medical Genomics 2020 13:89

    Content type: Research article

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  19. The majority of copy number callers requires high read coverage data that is often achieved with elevated material input, which increases the heterogeneity of tissue samples. However, to gain insights into sma...

    Authors: Stefanie Friedrich, Remus Barbulescu, Thomas Helleday and Erik L. L. Sonnhammer

    Citation: BMC Medical Genomics 2020 13:76

    Content type: Software

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  20. 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

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  21. 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

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  22. 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

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  23. 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

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  24. 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

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  25. 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

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  26. In 2012, Venet et al. proposed that at least in the case of breast cancer, most published signatures are not significantly more associated with outcome than randomly generated signatures. They suggested that n...

    Authors: Elnaz Saberi Ansar, Changiz Eslahchii, Mahsa Rahimi, Lobat Geranpayeh, Marzieh Ebrahimi, Rosa Aghdam and Gwenneg Kerdivel

    Citation: BMC Medical Genomics 2019 12:160

    Content type: Research Article

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  27. Dementia with Lewy bodies (DLB) is the second most common subtype of neurodegenerative dementia in humans following Alzheimer’s disease (AD). Present clinical diagnosis of DLB has high specificity and low sens...

    Authors: Daichi Shigemizu, Shintaro Akiyama, Yuya Asanomi, Keith A. Boroevich, Alok Sharma, Tatsuhiko Tsunoda, Takashi Sakurai, Kouichi Ozaki, Takahiro Ochiya and Shumpei Niida

    Citation: BMC Medical Genomics 2019 12:150

    Content type: Research article

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  28. The amount of publicly available cancer-related “omics” data is constantly growing and can potentially be used to gain insights into the tumour biology of new cancer patients, their diagnosis and suitable trea...

    Authors: Petr V. Nazarov, Anke K. Wienecke-Baldacchino, Andrei Zinovyev, Urszula Czerwińska, Arnaud Muller, Dorothée Nashan, Gunnar Dittmar, Francisco Azuaje and Stephanie Kreis

    Citation: BMC Medical Genomics 2019 12:132

    Content type: Technical advance

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  29. The five-year survival rate and therapeutic effect of malignant glioma is low. Identification of key/associated proteins and pathways in glioma is necessary for developing effective diagnosis and targeted ther...

    Authors: Yongqin Yin, Bo Li, Kejie Mou, Muhammad T. Khan, Aman C. Kaushik, Dongqing Wei and Yu-Juan Zhang

    Citation: BMC Medical Genomics 2019 12:125

    Content type: Research article

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  30. Psoriasis and atopic dermatitis are two inflammatory skin diseases with a high prevalence and a significant burden on the patients. Underlying molecular mechanisms include chronic inflammation and abnormal pro...

    Authors: Zandra C. Félix Garza, Michael Lenz, Joerg Liebmann, Gökhan Ertaylan, Matthias Born, Ilja C. W. Arts, Peter A. J. Hilbers and Natal A. W. van Riel

    Citation: BMC Medical Genomics 2019 12:121

    Content type: Research article

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  31. microRNA (miRNA) is a short RNA (~ 22 nt) that regulates gene expression at the posttranscriptional level. Aberration of miRNA expressions could affect their targeting mRNAs involved in cancer-related signalin...

    Authors: Lizhong Ding, Zheyun Feng and Yongsheng Bai

    Citation: BMC Medical Genomics 2019 12:117

    Content type: Research article

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  32. Targeted deep sequencing is a highly effective technology to identify known and novel single nucleotide variants (SNVs) with many applications in translational medicine, disease monitoring and cancer profiling...

    Authors: Dimitrios Kleftogiannis, Marco Punta, Anuradha Jayaram, Shahneen Sandhu, Stephen Q. Wong, Delila Gasi Tandefelt, Vincenza Conteduca, Daniel Wetterskog, Gerhardt Attard and Stefano Lise

    Citation: BMC Medical Genomics 2019 12:115

    Content type: Technical advance

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  33. 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

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  34. 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

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  35. 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

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  36. 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

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  37. 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

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  38. 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

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  39. 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

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  40. 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

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