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 48
  1. Content type: Methodology article

    The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery and animal model validation. Here, we report development and tes...

    Authors: Julie F. Foley, Dhiral P. Phadke, Owen Hardy, Sara Hardy, Victor Miller, Anup Madan, Kellie Howard, Kimberly Kruse, Cara Lord, Sreenivasa Ramaiahgari, Gregory G. Solomon, Ruchir R. Shah, Arun R. Pandiri, Ronald A. Herbert, Robert C. Sills and B. Alex Merrick

    Citation: BMC Genomics 2018 19:487

    Published on:

  2. Content type: Research article

    Copy number variation (CNV) has been implicated in the genetics of multiple human diseases. Spinal muscular atrophy (SMA) and 22q11.2 deletion syndrome (22q11.2DS) are two of the most common diseases which are...

    Authors: Xiaoqing Zhang, Bo Wang, Lichen Zhang, Guoling You, Robert A. Palais, Luming Zhou and Qihua Fu

    Citation: BMC Genomics 2018 19:485

    Published on:

  3. Content type: Research article

    Face morphology is strongly determined by genetic factors. However, only a small number of genes related to face morphology have been identified to date. Here, we performed a two-stage genome-wide association ...

    Authors: Seongwon Cha, Ji Eun Lim, Ah Yeon Park, Jun-Hyeong Do, Si Woo Lee, Chol Shin, Nam Han Cho, Ji-One Kang, Jeong Min Nam, Jong-Sik Kim, Kwang-Man Woo, Seung-Hwan Lee, Jong Yeol Kim and Bermseok Oh

    Citation: BMC Genomics 2018 19:481

    Published on:

  4. Content type: Research article

    Gene expression can be influenced by DNA methylation 1) distally, at regulatory elements such as enhancers, as well as 2) proximally, at promoters. Our current understanding of the influence of distal DNA meth...

    Authors: Elizabeth M. Kennedy, George N. Goehring, Michael H. Nichols, Chloe Robins, Divya Mehta, Torsten Klengel, Eleazar Eskin, Alicia K. Smith and Karen N. Conneely

    Citation: BMC Genomics 2018 19:476

    Published on:

  5. Content type: Research article

    It is well known that development of prostate cancer (PC) can be attributed to somatic mutations of the genome, acquired within proto-oncogenes or tumor-suppressor genes. What is less well understood is how ge...

    Authors: Jean M. Winter, Natasha L. Curry, Derek M. Gildea, Kendra A. Williams, Minnkyong Lee, Ying Hu and Nigel P. S. Crawford

    Citation: BMC Genomics 2018 19:450

    Published on:

  6. Content type: Research article

    The greater bamboo lemur (Prolemur simus) is a member of the Family Lemuridae that is unique in their dependency on bamboo as a primary food source. This Critically Endangered species lives in small forest patche...

    Authors: Melissa T. R. Hawkins, Ryan R. Culligan, Cynthia L. Frasier, Rebecca B. Dikow, Ryan Hagenson, Runhua Lei and Edward E. Louis Jr

    Citation: BMC Genomics 2018 19:445

    Published on:

  7. Content type: Research article

    The role of PPARα in gene regulation in mouse liver is well characterized. However, less is known about the role of PPARα in human liver. The aim of the present study was to better characterize the impact of P...

    Authors: Montserrat A. de la Rosa Rodriguez, Go Sugahara, Guido J. E. J. Hooiveld, Yuji Ishida, Chise Tateno and Sander Kersten

    Citation: BMC Genomics 2018 19:443

    Published on:

  8. Content type: Research article

    Lung cancer is a very heterogeneous disease that can be pathologically classified into different subtypes including small-cell lung carcinoma (SCLC), lung adenocarcinoma (LUAD), lung squamous cell carcinoma (L...

    Authors: Shu Zhang, Mingfa Li, Hongbin Ji and Zhaoyuan Fang

    Citation: BMC Genomics 2018 19:435

    Published on:

  9. Content type: Research article

    Microdeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate. Amongst the genes withi...

    Authors: Maria Zoupa, Guilherme Machado Xavier, Stephanie Bryan, Ioannis Theologidis, Matthew Arno and Martyn T. Cobourne

    Citation: BMC Genomics 2018 19:429

    Published on:

  10. Content type: Research article

    Congenital heart disease (CHD) is the leading non-infectious cause of death in infants. Monozygotic (MZ) twins share nearly all of their genetic variants before and after birth. Nevertheless, MZ twins are some...

    Authors: Guoliang Lyu, Chao Zhang, Te Ling, Rui Liu, Le Zong, Yiting Guan, Xiaoke Huang, Lei Sun, Lijun Zhang, Cheng Li, Yu Nie and Wei Tao

    Citation: BMC Genomics 2018 19:428

    Published on:

  11. Content type: Research article

    The main bottleneck for genomic studies of tumors is the limited availability of fresh frozen (FF) samples collected from patients, coupled with comprehensive long-term clinical follow-up. This shortage could ...

    Authors: Noa Bossel Ben-Moshe, Shlomit Gilad, Gili Perry, Sima Benjamin, Nora Balint-Lahat, Anya Pavlovsky, Sharon Halperin, Barak Markus, Ady Yosepovich, Iris Barshack, Einav Nili Gal-Yam, Eytan Domany, Bella Kaufman and Maya Dadiani

    Citation: BMC Genomics 2018 19:419

    Published on:

  12. Content type: Methodology article

    Bisulfite sequencing is widely employed to study the role of DNA methylation in disease; however, the data suffer from biases due to coverage depth variability. Imputation of methylation values at low-coverage...

    Authors: Luli S. Zou, Michael R. Erdos, D. Leland Taylor, Peter S. Chines, Arushi Varshney, Stephen C. J. Parker, Francis S. Collins and John P. Didion

    Citation: BMC Genomics 2018 19:390

    Published on:

  13. Content type: Software

    Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases. Similar to how genome-wide associat...

    Authors: Simon Jonas Larsen, Luisa Matos do Canto, Silvia Regina Rogatto and Jan Baumbach

    Citation: BMC Genomics 2018 19:369

    Published on:

  14. Content type: Research article

    Cell-type-specific genes exhibit heterogeneity in genomic contexts and may be subject to different epigenetic regulations through different gene transcriptional processes depending on the cell type involved. T...

    Authors: Mayumi Oda, Shunichi Wakabayashi, N. Ari Wijetunga, Shinsuke Yuasa, Hirokazu Enomoto, Ruri Kaneda, Sung Han Yoon, Nishant Mittal, Qiang Jing, Masako Suzuki, John M. Greally, Keiichi Fukuda and Shinji Makino

    Citation: BMC Genomics 2018 19:349

    Published on:

  15. Content type: Research article

    Although sleep deprivation is associated with neurobehavioral impairment that may underlie significant risks to performance and safety, there is no reliable biomarker test to detect dangerous levels of impairm...

    Authors: Hilary A. Uyhelji, Doris M. Kupfer, Vicky L. White, Melinda L. Jackson, Hans P. A. Van Dongen and Dennis M. Burian

    Citation: BMC Genomics 2018 19:341

    Published on:

  16. Content type: Research article

    Circular RNAs (circRNAs) are a novel class of endogenous, non-coding RNAs that form covalently closed continuous loops and that are both highly conserved and abundant in the mammalian brain. A role for circRNA...

    Authors: Shobana Sekar, Lori Cuyugan, Jonathan Adkins, Philipp Geiger and Winnie S. Liang

    Citation: BMC Genomics 2018 19:340

    Published on:

  17. Content type: Research article

    Here we present an in-depth characterization of the mechanism of sequencer-induced sample contamination due to the phenomenon of index swapping that impacts Illumina sequencers employing patterned flow cells w...

    Authors: Maura Costello, Mark Fleharty, Justin Abreu, Yossi Farjoun, Steven Ferriera, Laurie Holmes, Brian Granger, Lisa Green, Tom Howd, Tamara Mason, Gina Vicente, Michael Dasilva, Wendy Brodeur, Timothy DeSmet, Sheila Dodge, Niall J. Lennon…

    Citation: BMC Genomics 2018 19:332

    Published on:

  18. Content type: Research article

    The Jurkat cell line has an extensive history as a model of T cell signaling. But at the turn of the 21st century, some expression irregularities were observed, raising doubts about how closely the cell line p...

    Authors: Louis Gioia, Azeem Siddique, Steven R. Head, Daniel R. Salomon and Andrew I. Su

    Citation: BMC Genomics 2018 19:334

    Published on:

Page 1 of 48

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