About the Journal
Journal of Clinical Genomics is a transdisciplinary, peer reviewed journal that aims to publish original research papers on genome sequencing, gene expression, epigenetics, proteomics, metagenics, bioinformatics, pharmacogenomics and oncogenomics.
Journal of Clinical Genomics provides complete overview of various next generation sequencing (NGS) technologies which are being used for clinical diagnostics. We are also focusing on the new database developed named Clinical NGS database for improving Clinical NGS workflow.
Clinical genomic testing now has grown from a niche of rare disorders to a broad scope of application for complex diseases. Application of these clinical genomic testing includes newborn screening for highly penetrant diseases, diagnostic and carrier testing for inherited disorders, predictive and presymptomatic testing for adult onset and complex disorders. The journal focusses on genetic testing for heritable genotypes or karyotypes which opposed to somatic mutations in cancer or viral genetic testing, identity DNA testing, whole genome and whole exome analysis.
The journal also focusses on clinicogenomics study design to computational analysis. Any article pertaining to following topics can be considered for publication. Scope of journal is not merely delimited with specific keywords but for convenience to authors, here we included some key areas of research:
- Next generation sequencing(NGS)
- Neurogenetics disorders
- Genetic drift
- Genetic Mutation
- Protein Sequence Analysis
- Whole Genome
- Whole Exome
- Human Genome Variation
- Gene mutations
- Epigenetic modification
- Gene profiling
- Copy number variation (CNV) detection
Journal strictly follows the peer-review process for unbiased evaluation and publication. The Editorial Manager System helps in maintaining the quality of the peer review process and facilitates the authors to track the process of manuscript evaluation and publication. All the submitted manuscripts undergo peer review by the subject matter experts under the guidance of the Editor-in-Chief or assigned Editorial member of the Journal.
Next generation sequencing (NGS)
Next-generation sequencing (NGS) is also known as high-throughput sequencing it is term used to describe a number of different modern sequencing technologies including Illumina (Solexa) sequencing, Whole genome sequencing, Targeted sequencing, Amplicon sequencing, exome sequencing, De novo sequencing , Transcriptomics etc. These recent technologies allow us to sequence DNA and RNA much more quickly and cheaply than the previously used Sanger sequencing, and as such have revolutionized the study of genomics and molecular biology.
Related Journals of Next generation sequencing (NGS)
Cell Biology: Research & Therapy, Journal of Applied Bioinformatics & Computational Biology
A neurogenetic disorder is defined as a disease caused by a defect in 1 or more genes that affect the differentiation and function of neuroectoderm and its derivatives. There are 2 types of neurogenetic disorders. Type 1 neurogenetic disorders include those resulting from malfunction of genes expressed in the neuroectoderm. Most of the classic inherited disorders belong to this category. Type 2 neurogenetic disorders are those in which neurologic manifestations are caused indirectly by the abnormal function of a gene not expressed in the nervous system. Example; Cerebral gigantism, Bipolar disorder, HTLV-1 associated myelopathy etc. Advances in the molecular biology of genetic disorders, sequencing, and identification of gene mutations have enabled molecular diagnosis of these disorders.
Genetic drift describes random fluctuations in the numbers of gene variants in a population. Genetic drift takes place when the occurrence of variant forms of a gene, called alleles, increases and decreases by chance over time. These variations in the presence of alleles are measured as changes in allele frequencies. It occurs in small populations, where infrequently occurring alleles face a greater chance of being lost. Once it begins, genetic drift will continue until the involved allele is either lost by a population or until it is the only allele present in a population at a particular locus.
A genome-scale metabolic network of chemical reactions which take place inside a living organism is primarily reconstructed from the information that is present in its genome and involves steps such as functional annotation of the genome, identification of the associated reactions and determination of their stoichiometry, assignment of localization, determination of the biomass composition, estimation of energy requirements, and definition of model constraints. This information can be integrated into a stoichiometric model of metabolism which can be used for detailed analysis of the metabolic potential of the organism using constraint-based modeling approaches and hence is valuable for understanding its metabolic capabilities.
Metagenomics is defined as branch of genetics which deals with the study of genetic material from environmental samples. It is the genomic analysis of microorganisms by direct extraction and cloning of DNA. Metagenomics deals with the study of microorganisms which cannot be cultured. Metagenomics has emerged as a powerful tool that can be used to analyze microbial communities regardless of the ability of member organisms to be cultured in the laboratory.
Related Journals of Metagenomics
Journal of Molecular Biology and Methods, Journal of Proteomics & Enzymology
Gene mutation is any change in the genetic information of any organism. These changes occur at many different levels, and they can have widely differing consequences. Mutations may be caused due to effects of physical agents and chemical agents. Mainly there are different types of mutations which include deletions, insertions, point mutations, substitutions, missense mutation, nonsense mutations etc. Most disease-causing gene mutations are uncommon in the general population. However, other genetic changes occur more frequently.
Related Journal of Genetic Mutation
Journal of Genetics and Gene Therapy, Journal of Genes and Proteins, Journal of Genetic Disorders & Genetic Reports
Protein Sequence Analysis
Determination of amino acid sequence of protein, the study of the conformation changes of proteins and also the study of the complex molecules with any other non-peptide molecule is protein sequence analysis. The cellular processes of a living organism are known by the discovery of the structure and function of proteins, thus allowing researcher to develop and design drug targets. Mass-spectrometry and Edman degradation are the major methods to determine the protein sequencing. They have a principle advantage by following expansive quantities of proteins in parallel, which are additionally quick, mechanized, practical, profoundly touchy, and sparing examples and reagents. At this point, it is a promising methodology with a wide assortment of utilizations for experimental and clinical exploration.
Whole-genome sequencing is the most comprehensive method for analyzing the genome. Genomic information has been instrumental in identifying inherited disorders, characterizing the mutations that drive cancer progression, and tracking disease outbreaks. Rapidly dropping sequencing costs and the ability to produce large volumes of data with today’s sequencers make whole-genome sequencing a powerful tool for genomics research. Whole-genome sequencing can detect single nucleotide variants, insertions/deletions, copy number changes, and large structural variants.
The exome the protein-coding region of the human genome represents less than 2% of the genome, but contains 85% of known disease-related variants, which makes whole-exome sequencing a cost-effective than whole-genome sequencing. Exome sequencing can efficiently identify coding variants across a wide range of applications, including population genetics, genetic disease, and cancer.
Human Genome Variation
The human genome is polymorphic, i.e., there are many DNA sequence variants among different individuals. These variants are the molecular basis of the genetic individuality of each member of our species. In addition, this genetic variability is the molecular substrate of the evolutionary process. Finally, this variability causes disease phenotypes or predispositions to common complex or multifactorial phenotypes and traits.
Gene mutation is any change in the genetic information of any organism. These changes occur at many different levels, and they can have widely differing consequences. Mutations may be caused due to effects of physical agents and chemical agents. Mainly there are different types of mutations which include deletions, insertions, point mutations, substitutions, missense mutations, nonsense mutations etc. Most disease-causing gene mutations are uncommon in the general population. However, other genetic changes occur more frequently.
Epigenetics is the study of cellular and physiological variations which are not caused by changes in the DNA sequence. Epigenetics is essentially the study of external or environmental factors that turn genes on and off and affect how cells read genes. Hence epigenetic research seeks to describe dynamic alterations in the transcriptional potential of a cell. At least three systems including DNA methylation, histone modification and non-coding RNA (ncRNA)-associated gene silencing are currently considered to initiate and sustain epigenetic change.
Gene profiling is the measurement of the activity of thousands of genes at time or to create a complete picture of cellular function. Gene expression profiling is the determination of the pattern of genes expressed, at the level of transcription, under specific circumstances or in a specific cell to give a global picture of cellular function. In almost all cells in an organism contain the entire genome of the organism only a small subset of those genes is expressed as messenger RNA (mRNA) at any given time and their relative expression can be evaluated. Techniques which are involved in profiling include DNA microarray technology or sequenced-based techniques such as serial analysis of gene expression.
Immunogenomics is analysis based on the genetic basis of susceptibility to complex or polygenic diseases (autoimmune or infectious diseases) and identification of the genetic factor responsible for variable immune response. E.g. Estimated effect of MHC, non-MHC and chemokines.
Genotyping is the process of determining differences in the genetic make-up (genotype) of an individual by examining the individual's DNA sequence using biological assays and comparing it to another individual's sequence or a reference sequence. It reveals the alleles an individual has inherited from their parents. Traditionally genotyping is the use of DNA sequences to define biological populations by use of molecular tools. It does not usually involve defining the genes of an individual.
Copy number variation (CNV) detection
Copy number variation (CNV) is a common source of genetic variation which is implicated in many genomic disorders. CNV is a form of structural variation (SV) in the genome. Usually, CNV refers to the duplication or deletion of DNA segments larger than 1 kbp. Genome-wide CNV detection is now possible using high-throughput, low-cost next generation sequencing (NGS) methods.