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  1. The goal of this study was to determine whether Levey-Jennings charts, which are widely used in clinical laboratories, can be used to create standardized internal quality controls (IQCs) for prenatal molecular...

    Authors: Binghuan Weng, Ya-li Xu, Jun Ying, Hao-kun Yang, Lan Su, Yan-mei Yang and Min Chen

    Citation: BMC Medical Genomics 2020 13:109

    Content type: Research article

    Published on:

  2. Colon adenocarcinoma (COAD) is one of the most common gastrointestinal cancers globally. Molecular aberrations of tumor suppressors and/or oncogenes are the main contributors to tumorigenesis. However, the exa...

    Authors: Arash Poursheikhani, Mohammad Reza Abbaszadegan, Negin Nokhandani and Mohammad Amin Kerachian

    Citation: BMC Medical Genomics 2020 13:108

    Content type: Research article

    Published on:

  3. We have evaluated an NGS-based method to detect recurrent gene fusions of diagnostic and prognostic importance in hematological malignancies. Our goal was to achieve a highly specific assay with a simple workf...

    Authors: Marie Engvall, Nicola Cahill, Britt-Inger Jonsson, Martin Höglund, Helene Hallböök and Lucia Cavelier

    Citation: BMC Medical Genomics 2020 13:106

    Content type: Research article

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  4. Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete cessation of airflow during sleep and is linked to negative health outcomes. Understanding the genetic factors influencing e...

    Authors: Olivia J. Veatch, Christopher R. Bauer, Brendan T. Keenan, Navya S. Josyula, Diego R. Mazzotti, Kanika Bagai, Beth A. Malow, Janet D. Robishaw, Allan I. Pack and Sarah A. Pendergrass

    Citation: BMC Medical Genomics 2020 13:105

    Content type: Research article

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  5. One of the tasks in the iDASH Secure Genome Analysis Competition in 2018 was to develop blockchain-based immutable logging and querying for a cross-site genomic dataset access audit trail. The specific challen...

    Authors: Nicholas D. Pattengale and Corey M. Hudson

    Citation: BMC Medical Genomics 2020 13(Suppl 7):102

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  6. The sharing of biomedical data is crucial to enable scientific discoveries across institutions and improve health care. For example, genome-wide association studies (GWAS) based on a large number of samples ca...

    Authors: Miran Kim, Yongsoo Song, Baiyu Li and Daniele Micciancio

    Citation: BMC Medical Genomics 2020 13(Suppl 7):99

    Content type: Research

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    This article is part of a Supplement: Volume 13 Supplement 7

  7. Authors: Tsung-Ting Kuo, Xiaoqian Jiang, Haixu Tang, XiaoFeng Wang, Tyler Bath, Diyue Bu, Lei Wang, Arif Harmanci, Shaojie Zhang, Degui Zhi, Heidi J. Sofia and Lucila Ohno-Machado

    Citation: BMC Medical Genomics 2020 13(Suppl 7):98

    Content type: Introduction

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  8. Genomic data have been collected by different institutions and companies and need to be shared for broader use. In a cross-site genomic data sharing system, a secure and transparent access control audit module...

    Authors: Shuaicheng Ma, Yang Cao and Li Xiong

    Citation: BMC Medical Genomics 2020 13(Suppl 7):91

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  9. One way of investigating how genes affect human traits would be with a genome-wide association study (GWAS). Genetic markers, known as single-nucleotide polymorphism (SNP), are used in GWAS. This raises privac...

    Authors: Jun Jie Sim, Fook Mun Chan, Shibin Chen, Benjamin Hong Meng Tan and Khin Mi Mi Aung

    Citation: BMC Medical Genomics 2020 13(Suppl 7):90

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  10. Privacy-preserving computations on genomic data, and more generally on medical data, is a critical path technology for innovative, life-saving research to positively and equally impact the global population. I...

    Authors: Sergiu Carpov, Nicolas Gama, Mariya Georgieva and Juan Ramon Troncoso-Pastoriza

    Citation: BMC Medical Genomics 2020 13(Suppl 7):88

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  11. Genome-Wide Association Studies (GWAS) refer to observational studies of a genome-wide set of genetic variants across many individuals to see if any genetic variants are associated with a certain trait. A typi...

    Authors: Marcelo Blatt, Alexander Gusev, Yuriy Polyakov, Kurt Rohloff and Vinod Vaikuntanathan

    Citation: BMC Medical Genomics 2020 13(Suppl 7):83

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  12. Blockchain has emerged as a decentralized and distributed framework that enables tamper-resilience and, thus, practical immutability for stored data. This immutability property is important in scenarios where ...

    Authors: Mustafa Safa Ozdayi, Murat Kantarcioglu and Bradley Malin

    Citation: BMC Medical Genomics 2020 13(Suppl 7):82

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  13. Genomic variants are considered sensitive information, revealing potentially private facts about individuals. Therefore, it is important to control access to such data. A key aspect of controlled access is sec...

    Authors: Gamze Gürsoy, Robert Bjornson, Molly E. Green and Mark Gerstein

    Citation: BMC Medical Genomics 2020 13(Suppl 7):78

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  14. One of three tasks in a secure genome analysis competition called iDASH 2018 was to develop a solution for privacy-preserving GWAS computation based on homomorphic encryption. The scenario is that a data holde...

    Authors: Duhyeong Kim, Yongha Son, Dongwoo Kim, Andrey Kim, Seungwan Hong and Jung Hee Cheon

    Citation: BMC Medical Genomics 2020 13(Suppl 7):77

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  15. Finding long matches in deoxyribonucleic acid (DNA) sequences in large aligned genetic sequences is a problem of great interest. A paradigmatic application is the identification of distant relatives via large ...

    Authors: Katerina Sotiraki, Esha Ghosh and Hao Chen

    Citation: BMC Medical Genomics 2020 13(Suppl 7):72

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 7

  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

    Published on:

  17. Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Fi...

    Authors: Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer…

    Citation: BMC Medical Genomics 2020 13:103

    Content type: Research article

    Published on:

  18. Liquid-based cytology (LBC) is now a widely used method for cytologic screening and cancer diagnosis. Since the cells are fixed with alcohol-based fixatives, and the specimens are stored in a liquid condition,...

    Authors: Toshiaki Akahane, Ikumi Kitazono, Shintaro Yanazume, Masaki Kamio, Shinichi Togami, Ippei Sakamoto, Sachio Nohara, Seiya Yokoyama, Hiroaki Kobayashi, Tsubasa Hiraki, Shinsuke Suzuki, Shinichi Ueno and Akihide Tanimoto

    Citation: BMC Medical Genomics 2020 13:101

    Content type: Research article

    Published on:

  19. BMI is a strong indicator of complications from type I diabetes, especially under intensive treatment.

    Authors: Agnieszka H. Ludwig-Słomczyńska, Michał T. Seweryn, Przemysław Kapusta, Ewelina Pitera, Samuel K. Handelman, Urszula Mantaj, Katarzyna Cyganek, Paweł Gutaj, Łucja Dobrucka, Ewa Wender-Ożegowska, Maciej T. Małecki and Paweł P. Wołkow

    Citation: BMC Medical Genomics 2020 13:97

    Content type: Research article

    Published on:

  20. Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13). NIPT has high sensitivity and high sp...

    Authors: Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan and Wei-Wu Shi

    Citation: BMC Medical Genomics 2020 13:96

    Content type: Case report

    Published on:

  21. Age-related macular degeneration (AMD) is a progressive retinal disease contributing to blindness worldwide. Multiple estimates for AMD heritability (h2) exist; however, a substantial proportion of h2 is not attr...

    Authors: Andrea R. Waksmunski, Michelle Grunin, Tyler G. Kinzy, Robert P. Igo Jr, Jonathan L. Haines and Jessica N. Cooke Bailey

    Citation: BMC Medical Genomics 2020 13:95

    Content type: Research article

    Published on:

  22. 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

    Published on:

  23. Left-sided heart failure (HF) is documented as a key prognostic factor in HF. However, the relative molecular mechanisms underlying left-sided HF is unknown. The purpose of this study is to unearth significant...

    Authors: Jiamin Zhou, Wei Zhang, Chunying Wei, Zhiliang Zhang, Dasong Yi, Xiaoping Peng, Jingtian Peng, Ran Yin, Zeqi Zheng, Hongmei Qi, Yunfeng Wei and Tong Wen

    Citation: BMC Medical Genomics 2020 13:93

    Content type: Research article

    Published on:

  24. The role of histone modifications is poorly characterized in breast cancer, especially within the major subtypes. While epigenetic modifications may enhance the adaptability of a cell to both therapy and the s...

    Authors: Damien Kaukonen, Riina Kaukonen, Lélia Polit, Bryan T. Hennessy, Riikka Lund and Stephen F. Madden

    Citation: BMC Medical Genomics 2020 13:92

    Content type: Research article

    Published on:

  25. 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

    Published on:

  26. Medulloblastoma (MB) is one of the most common malignant cancers in children. MB is primarily classified into four subgroups based on molecular and clinical characteristics as (1) WNT (2) Sonic-hedgehog (SHH) ...

    Authors: Varun Kesherwani, Mamta Shukla, Don W. Coulter, J. Graham Sharp, Shantaram S. Joshi and Nagendra K. Chaturvedi

    Citation: BMC Medical Genomics 2020 13:87

    Content type: Research article

    Published on:

  27. Pulmonary arterial hypertension (PAH) is a life-threatening condition. The aim of this study was to explore potential crucial genes and pathways associated with PAH based on integrative analyses of gene expres...

    Authors: Jing Luo, Haiyan Li, Zhenwei Liu, Chenlu Li, Ruochen Wang, Jinxia Fang, Saisai Lu, Jing Guo, Xiaochun Zhu and Xiaobing Wang

    Citation: BMC Medical Genomics 2020 13:86

    Content type: Research article

    Published on:

  28. Oesophageal atresia (OA) is a life-threatening developmental defect characterized by a lost continuity between the upper and lower oesophagus. The most common form is a distal connection between the trachea an...

    Authors: Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk and Niklas Dahl

    Citation: BMC Medical Genomics 2020 13:85

    Content type: Research article

    Published on:

  29. A growing evidence suggests that long non-coding RNAs (lncRNAs) can function as a microRNA (miRNA) sponge in various diseases including oral cancer. However, the pathophysiological function of lncRNAs remains ...

    Authors: Junhao Yin, Xiaoli Zeng, Zexin Ai, Miao Yu, Yang’ou Wu and Shengjiao Li

    Citation: BMC Medical Genomics 2020 13:84

    Content type: Research article

    Published on:

  30. 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

    Published on:

  31. Recurrent pregnancy loss (RPL) is a significant adverse pregnancy complication, with an incompletely understood pathology. While many entities were proposed to elucidate the pathogenic basis of RPL, only few w...

    Authors: Wael Bahia, Ismael Soltani, Anouar Abidi, Anis Haddad, Salima Ferchichi, Samia Menif and Wassim Y. Almawi

    Citation: BMC Medical Genomics 2020 13:75

    Content type: Research article

    Published on:

  32. Thalassemia is a hereditary hemolytic anemia with a severity ranging from mild, non-transfusion dependent to severe chronic anemia requiring lifelong transfusion. Transfusional iron overload is a major complic...

    Authors: Nithita Nanthatanti, Adisak Tantiworawit, Pokpong Piriyakhuntorn, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Wirote Tuntiwechapikul, Kanda Fanhchaksai, Pimlak Charoenkwan, Sirinart Kumfu and Nipon Chattipakorn

    Citation: BMC Medical Genomics 2020 13:73

    Content type: Research article

    Published on:

  33. Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for...

    Authors: Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen and Min Sheng

    Citation: BMC Medical Genomics 2020 13:70

    Content type: Research article

    Published on:

  34. Chromothripsis is an event of genomic instability leading to complex chromosomal alterations in cancer. Frequent long-range chromatin interactions between transcription factors (TFs) and targets may promote ex...

    Authors: Chun-Lin Lin, Xi Tan, Meizhen Chen, Meena Kusi, Chia-Nung Hung, Chih-Wei Chou, Ya-Ting Hsu, Chiou-Miin Wang, Nameer Kirma, Chun-Liang Chen, Ching-Hung Lin, Kate I. Lathrop, Richard Elledge, Virginia G. Kaklamani, Kohzoh Mitsuya and Tim H.-M. Huang

    Citation: BMC Medical Genomics 2020 13:69

    Content type: Research article

    Published on:

  35. 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:

  36. 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:

  37. 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:

  38. 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

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  39. 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:

  40. 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

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  41. 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:

  42. 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:

  43. 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

  44. 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

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.