Skip to content


Human and rodent genomics

Section edited by Leonid Bystrykh, Leonard Schalkwyck and Stefan Wiemann

This section covers the genome structure and function in humans, primates and rodents.

Page 1 of 47
  1. Content type: Research article

    Circular RNAs (circRNAs) are predominantly derived from protein coding genes, and some can act as microRNA sponges or transcriptional regulators. Changes in circRNA levels have been identified during human dev...

    Authors: Osagie G. Izuogu, Abd A. Alhasan, Carla Mellough, Joseph Collin, Richard Gallon, Jonathon Hyslop, Francesco K. Mastrorosa, Ingrid Ehrmann, Majlinda Lako, David J. Elliott, Mauro Santibanez-Koref and Michael S. Jackson

    Citation: BMC Genomics 2018 19:276

    Published on:

  2. Content type: Methodology article

    Next generation sequencing (NGS) has become a common technology for clinical genetic tests. The quality of NGS calls varies widely and is influenced by features like reference sequence characteristics, read de...

    Authors: Jeroen van den Akker, Gilad Mishne, Anjali D. Zimmer and Alicia Y. Zhou

    Citation: BMC Genomics 2018 19:263

    Published on:

  3. Content type: Software

    High-throughput sequencing data are dramatically increasing in volume. Thus, there is urgent need for efficient tools to perform fast and integrative analysis of multiple data types. Enriched heatmap is a spec...

    Authors: Zuguang Gu, Roland Eils, Matthias Schlesner and Naveed Ishaque

    Citation: BMC Genomics 2018 19:234

    Published on:

  4. Content type: Methodology article

    Understanding the diversity of repair outcomes after introducing a genomic cut is essential for realizing the therapeutic potential of genomic editing technologies. Targeted PCR amplification combined with Nex...

    Authors: Georgia Giannoukos, Dawn M. Ciulla, Eugenio Marco, Hayat S. Abdulkerim, Luis A. Barrera, Anne Bothmer, Vidya Dhanapal, Sebastian W. Gloskowski, Hariharan Jayaram, Morgan L. Maeder, Maxwell N. Skor, Tongyao Wang, Vic E. Myer and Christopher J. Wilson

    Citation: BMC Genomics 2018 19:212

    Published on:

  5. Content type: Research article

    Aneuploidy, or abnormal chromosome numbers, severely alters cell physiology and is widespread in cancers and other pathologies. Using model cell lines engineered to carry one or more extra chromosomes, it has ...

    Authors: Milena Dürrbaum, Christine Kruse, K. Julia Nieken, Bianca Habermann and Zuzana Storchová

    Citation: BMC Genomics 2018 19(Suppl 2):197

    Published on:

  6. Content type: Research article

    The murine discs large homolog 2 (DLG2; post synaptic density 93 (PSD-93); Chapsyn-110) is a member of the membrane-associated guanylate kinase (MAGUK) protein family involved in receptor assembly and associat...

    Authors: Shafaqat Ali, Alexander Hoven, Regine J. Dress, Heiner Schaal, Judith Alferink and Stefanie Scheu

    Citation: BMC Genomics 2018 19(Suppl 2):194

    Published on:

  7. Content type: Research article

    Noninvasive biomarkers are urgently needed for patients with nonalcoholic steatohepatitis (NASH) to assist in diagnosis, monitoring disease progression and assessing treatment response. Recently several explor...

    Authors: Jie Liu, Yue Xiao, Xikun Wu, Lichun Jiang, Shurong Yang, Zhiming Ding, Zhuo Fang, Haiqing Hua, Mark Stephen Kirby and Jianyong Shou

    Citation: BMC Genomics 2018 19:188

    Published on:

  8. Content type: Methodology article

    The recommended genomic DNA input requirements for whole genome single nucleotide polymorphism microarrays can limit the scope of molecular epidemiological studies. We performed a large-scale evaluation of who...

    Authors: Casey L. Dagnall, Lindsay M. Morton, Belynda D. Hicks, Shengchao Li, Weiyin Zhou, Eric Karlins, Kedest Teshome, Salma Chowdhury, Kerrie S. Lashley, Joshua N. Sampson, Leslie L. Robison, Gregory T. Armstrong, Smita Bhatia, Gretchen A. Radloff, Stella M. Davies, Margaret A. Tucker…

    Citation: BMC Genomics 2018 19:182

    Published on:

  9. Content type: Research article

    The generation of induced pluripotent stem cells (iPSCs) has underdefined mechanisms. In addition, leukemia inhibitory factor (LIF) activated Janus kinase/signal transducer and activator of transcription 3 (JA...

    Authors: Ling Wang, Zongliang Jiang, Delun Huang, Jingyue Duan, Chang Huang, Shannon Sullivan, Kaneha Vali, Yexuan Yin, Ming Zhang, Jill Wegrzyn, Xiuchun ( Cindy) Tian and Young Tang

    Citation: BMC Genomics 2018 19:183

    Published on:

  10. Content type: Research article

    Evolutionarily conserved RFX transcription factors (TFs) regulate their target genes through a DNA sequence motif called the X-box. Thereby they regulate cellular specialization and terminal differentiation. H...

    Authors: Debora Sugiaman-Trapman, Morana Vitezic, Eeva-Mari Jouhilahti, Anthony Mathelier, Gilbert Lauter, Sougat Misra, Carsten O. Daub, Juha Kere and Peter Swoboda

    Citation: BMC Genomics 2018 19:181

    Published on:

  11. Content type: Research article

    Gestational disorders such as intrauterine growth restriction (IUGR) and pre-eclampsia (PE) are main causes of poor perinatal outcomes worldwide. Both diseases are related with impaired materno-fetal nutrient ...

    Authors: Xiao Huang, Pascale Anderle, Lu Hostettler, Marc U. Baumann, Daniel V. Surbek, Edgar C. Ontsouka and Christiane Albrecht

    Citation: BMC Genomics 2018 19:173

    Published on:

  12. Content type: Software

    ATAC-seq (Assays for Transposase-Accessible Chromatin using sequencing) is a recently developed technique for genome-wide analysis of chromatin accessibility. Compared to earlier methods for assaying chromatin...

    Authors: Jianhong Ou, Haibo Liu, Jun Yu, Michelle A. Kelliher, Lucio H. Castilla, Nathan D. Lawson and Lihua Julie Zhu

    Citation: BMC Genomics 2018 19:169

    Published on:

  13. Content type: Methodology article

    The development of chromosomal conformation capture techniques, particularly, the Hi-C technique, has made the analysis and study of the spatial conformation of a genome an important topic in bioinformatics an...

    Authors: Oluwatosin Oluwadare, Yuxiang Zhang and Jianlin Cheng

    Citation: BMC Genomics 2018 19:161

    Published on:

  14. Content type: Research article

    Current technologies in next-generation sequencing are offering high throughput reads at low costs, but still suffer from various sequencing errors. Although pyro- and ion semiconductor sequencing both have th...

    Authors: Gergely Ivády, László Madar, Erika Dzsudzsák, Katalin Koczok, János Kappelmayer, Veronika Krulisova, Milan Macek Jr, Attila Horváth and István Balogh

    Citation: BMC Genomics 2018 19:158

    Published on:

  15. Content type: Research article

    Chromocenters are defined as a punctate condensed blocks of chromatin in the interphase cell nuclei of certain cell types with unknown biological significance. In recent years a progress in revealing of chromo...

    Authors: Dmitrii I. Ostromyshenskii, Ekaterina N. Chernyaeva, Inna S. Kuznetsova and Olga I. Podgornaya

    Citation: BMC Genomics 2018 19:151

    Published on:

  16. Content type: Research article

    Epigenetic regulators are frequently mutated or aberrantly expressed in a variety of cancers, leading to altered transcription states that result in changes in cell identity, behavior, and response to therapy.

    Authors: Yuanxin Xi, Jiejun Shi, Wenqian Li, Kaori Tanaka, Kendra L. Allton, Dana Richardson, Jing Li, Hector L. Franco, Anusha Nagari, Venkat S. Malladi, Luis Della Coletta, Melissa S. Simper, Khandan Keyomarsi, Jianjun Shen, Mark T. Bedford, Xiaobing Shi…

    Citation: BMC Genomics 2018 19:150

    Published on:

  17. Content type: Research article

    Comprehensive understanding of intratumor heterogeneity requires identification of molecular markers, which are capable of differentiating different subpopulations and which also have clinical significance. On...

    Authors: Fan Wang, Zachariah Dohogne, Jin Yang, Yu Liu and Benjamin Soibam

    Citation: BMC Genomics 2018 19:137

    Published on:

  18. Content type: Methodology article

    Next-generation sequencing (NGS) is fundamental to the current biological and biomedical research. Construction of sequencing library is a key step of NGS. Therefore, various library construction methods have ...

    Authors: Jian Wu, Wei Dai, Lin Wu and Jinke Wang

    Citation: BMC Genomics 2018 19:143

    Published on:

Page 1 of 47

2016 Journal Metrics

Portable peer review

The editors of BMC Genomics support initiatives that expedite the peer review process and are happy to consider manuscripts that have been reviewed in Peerage of Science. Please indicate in your cover letter if this applies to your manuscript.

Space creator