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Call for papers - Genomics of hereditary diseases

Guest Editors

Yuanfeng Li, PhD, National Center for Protein Sciences, China
Varun Sharma, PhD, NMC Genetics India Pvt. Ltd., India

Submission Status: Open   |   Submission Deadline: 20 December 2024

BMC Genomic Data is calling for submissions to our Collection on Genomics of hereditary diseases in humans. Hereditary diseases can range from relatively common disorders such as cystic fibrosis and sickle cell anemia to rare diseases that affect only a handful of individuals worldwide. Despite the diversity of these diseases, they share a common thread: a genetic component that predisposes individuals to develop the condition. We encourage researchers to contribute papers exploring different genomic insights into a broad spectrum of hereditary diseases. Topics of interest include disease inheritance patterns, risk assessment and treatment of hereditary diseases, pharmacogenomics, epidemiology, population genetics, and epigenetics. Complex diseases will also be considered. 

New Content ItemThis Collection supports and amplifies research related to SDG 3: Good Health & Wellbeing.

Meet the Guest Editors

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Varun Sharma, PhD, NMC Genetics India Pvt. Ltd., India

Dr Varun Sharma is the Head of the Bioinformatics Division at NMC Genetics India Pvt. Ltd. He has expertise in developing statistical models for understanding genetic predisposition, genome-wide and candidate gene studies, linkage and phylogenetic analyses, and analysis of high-throughput sequencing data. His research focuses on developing polygenic risk scores and pharmacogenomic panels for diseases like type 2 diabetes, cardiovascular disorders, and psychiatric conditions in Indian populations. Dr Sharma has published extensively in peer-reviewed journals and received several prestigious fellowships, including the Lindau Nobel Laureate Fellowship. He obtained his PhD in Biotechnology from Shri Mata Vaishno Devi University, India and Postdoctoral fellow at Ancient DNA Laboratory, Birbal Sahni Institute of Paleosciences.

Yuanfeng Li, PhD, National Center for Protein Sciences, China

Dr Yuanfeng Li currently serves as an associate professor at the National Center for Protein Sciences in Beijing. He majors in medical genetics and genomics. Dr Li’s research interests mainly focus on the identification, functions and molecular mechanisms of the genes involved in the chronic hepatitis B (HBV), HBV-related liver cancer and COVID-19. Dr Li identified a series of susceptibility genes of these disorders and provided new insights into the pathogenesis of these disorders by highlighting the involvement of the pathways related to these genes. So far Dr Li has published papers in Nature Communications, Cell Discovery, Clinical Cancer Research, Genome Biology and Gastroenterology.

About the Collection

BMC Genomic Data is calling for submissions to our Collection entitled Genomics of hereditary diseases. This collection seeks to advance our understanding of the genetic underpinnings of hereditary diseases in humans.

Genomic technologies have revolutionized our ability to study hereditary diseases. By sequencing the entire genome or specific regions of interest, researchers can identify genetic variants associated with disease susceptibility, progression, and response to treatment. Moreover, advances in bioinformatics and computational biology have enabled the analysis of large-scale genomic datasets, uncovering novel genetic insights into hereditary diseases.

Continuing to advance our collective understanding of the genomics of hereditary diseases is important for several reasons. Firstly, it allows us to decipher the genetic mechanism underlying these diseases, paving the way for early detection, personalized treatment strategies, and even preventive measures. Research into the genomics of hereditary diseases has already led to significant breakthroughs, such as the identification of disease-causing genetic variants, the development of genetic screening tests for at-risk individuals, and the discovery of targeted therapies that specifically address the underlying genetic abnormalities. Looking ahead, we anticipate the refinement of existing diagnostic tools and therapeutic interventions, as well as the emergence of novel approaches that harness the power of genomics, artificial intelligence, and precision medicine. By unraveling the complexities of hereditary diseases at the genetic level, we can envision a future where personalized genomic medicine becomes a cornerstone of healthcare, offering tailored solutions that improve outcomes and quality of life for individuals affected by these conditions.

This Collection aims to provide a platform for researchers to showcase their latest findings, methodologies, and insights in this rapidly evolving field. We invite contributions that examine various aspects of hereditary diseases from a genomic perspective, including but not limited to:

  • Genomic approaches to risk assessment
  • Chromosomal anomalies in hereditary diseases
  • Hereditary cancer syndromes
  • Genomic approaches to neurological hereditary diseases
  • Pharmacogenomics of hereditary disorders
  • Genomic approaches for studying disease inheritance patterns
  • Genomic insights into multifactorial hereditary diseases
  • Epigenetics and hereditary disease susceptibility
  • Genomic epidemiology and population genetics of hereditary diseases
  • Genomics of complex diseases

For this collection we will consider research articles and data notes. However, studies reanalysing published data sets will not be considered. 

Image credit: [M] Anusorn /

There are currently no articles in this collection.

Submission Guidelines

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This Collection welcomes submission of original Research Articles and Data Notes. Should you wish to submit a different article type, please read our submission guidelines to confirm that type is accepted by the journal. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Genomics of hereditary diseases" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Editors have competing interests is handled by another Editorial Board Member who has no competing interests.