Journals in Human genetics
Journals in Human genetics
- ISSN: 1874-9399
Biochimica et Biophysica Acta: Gene Regulatory Mechanisms
BBA Gene Regulatory Mechanisms includes reports that describe novel insights into mechanisms of transcriptional, post-transcriptional and translational gene regulation. Special emphasis is placed on papers that identify epigenetic mechanisms of gene regulation, including chromatin, modification, and remodeling. This section also encompasses mechanistic studies of regulatory proteins and protein complexes; regulatory or mechanistic aspects of RNA processing; regulation of expression by small RNAs; genomic analysis of gene expression patterns; and modeling of gene regulatory pathways. Papers describing gene promoters, enhancers, silencers or other regulatory DNA regions must incorporate significant functions studies.The journal does not favorably review manuscripts identifying a miRNA-target pair without additional insights into the repression mechanism or significant advances in understanding regulatory pathways. In addition, the following elements should be an integral part of the study: •In silico prediction of miRNA targets must be experimentally verified using appropriate luciferase constructs and assays; •To exclude non-functional miRNA/mRNA interactions a reporter system including the whole 3'UTR of the target gene downstream the "luciferase" or GFP should be considered; •Any miRNA modulation should be validated by measuring the expression of the putative proteinPlease see our Guide for Authors for information on article submission. If you require any further information or help, please visit our Support Center
- ISSN: 1098-3600
Genetics in Medicine
Genetics in Medicine (GIM) is an official journal of the American College of Medical Genetics and Genomics. The journal's mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. As genetics and genomics continue to increase in importance and relevance in medical practice, the journal is an accessible and authoritative resource for the dissemination of medical genetic knowledge to all medical providers through appropriate original research, reviews, commentaries, standards, and guidelines. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.In addition:GIM does not publish case reportsManuscripts reporting population level research carried out in predominantly or exclusively White populations will generally not be accepted without strong justification for lack of diversity in the population studied.The significance of articles reporting data and/or observations from a limited geographic region is evaluated in the context of whether they are generalizable across relevant populations or whether they might fill a knowledge gap in populations that are underrepresented in genetics research or that experience health disparities.Although cancer genetics is a focus, GIM discourages cancer genetics manuscripts with data limited to somatic and/or tumor genetics. Manuscripts with novel findings on non-germline genetics (for example, somatic [tumor] variation, CHIP [clonal hematopoiesis of indeterminate potential], somatic and constitutional mosaicism) that inform our understanding of germline risk may also be considered. Manuscripts reporting on circulating tumor DNA (ctDNA) or "liquid biopsy" are also generally not within the scope of GIM.Manuscripts should not contain previously published material without appropriate permission.GWAS studies are generally low priority for GIM.
- ISSN: 2214-5400
Human Gene
Human Gene is a companion title to Gene and a member of the Gene Family. Human Gene publishes meta-analysis, genetics, genome projects, and regulation, expression, function, and evolution of genes that are relevant to human genetics. Examples include but are not limited toMeta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases)Genetics Papers - original studies describing new data on genetic variation (e.g., mutations, polymorphisms) in patient populationsGenome Wide Association Studies (GWAS) - examination of patient cohorts to identify common genetic factors that influence health and diseaseDNA Organization, Replication and Evolution Studies - focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA)Functional Genomics Studies - including transcriptional profiling, mRNA analysis, microRNA analysis, and analysis of noncoding and other RNAs using established technologiesEpigenom... Studies - including DNA methylation, histone modification, chromatin structure, imprinting, and chromatin remodelingGene Expression and Function Studies - focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) and high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways, and protein/protein networksAuthors are also welcome to submit to the other journals that make up the Gene Family: Gene, Gene Reports, Plant Gene.
- ISSN: 1383-5742
Mutation Research: Reviews in Mutation Research
The subject areas of Mutation Research - Reviews in Mutation Research (MRR) encompass the entire spectrum of the science of mutation research and its applications, with particular emphasis on the relationship between mutation and disease. Thus, this section will cover:Advances in human genome research (including evolving technologies for mutation detection and functional genomics) with applications in clinical genetics, gene therapy and health risk assessment for environmental agents of concernGenetic toxicology and environmental mutagenesis (including the factors that modulate the genetic activity of environmental agents) will continue to be prominent topics in this section.MRR supports and follows the general direction proposed by all major societies in the field part of the International Association of Environmental Mutagenesis and Genomics Societies (IAEMGS):Asociacion Latinoamericana de Mutagenesis, Carcinogenesis y Teratogenesis Ambiental (ALAMCTA)Brazilian Association of Mutagenesis and Environmental Genomics (MutaGen-Brasil)Chin... Environmental Mutagen Society (CEMS)European Environmental Mutagenesis and Genomics Society (EEMGS)Environmental Mutagenesis and Genomics Society (EMGS)Environmental Mutagen Society of India (EMS India)Iranian Environmental Mutagen Society (IrEMS)The Japanese Environmental Mutagen Society (JEMS)Korean Environmental Mutagen Society (KEMS)Molecular and Experimental Pathology Society of Australasia (MEPSA)Pan-African Environmental Mutagen Society (PAEMS)Philippines Environmental Mutagen Society (PEMS)Thai Environmental Mutagen Society (TEMS)Other Mutation Research sections: DNA Repair Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis (MR) Mutation Research - Genetic Toxicology and Environmental Mutagenesis (MRGTEM)
- ISSN: 0002-9297
The American Journal of Human Genetics
AJHG provides a record of research and review relating to heredity in humans and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology. Topics explored by AJHG include behavioral genetics, biochemical genetics, clinical genetics, cytogenetics, dysmorphology, gene therapy, genetic counseling, genetic epidemiology, genomics, immunogenetics, molecular genetics, neurogenetics, and population genetics.AJHG welcomes submissions of articles and reports on timely subjects concerning all aspects of human genetics, including studies of model organisms that are of direct relevance to human genetics. Manuscripts should be written in a manner accessible to investigators representing diverse backgrounds in human genetics. Descriptions of new statistical methods of general interest to the genetics community are welcome. New methods should be compared to existing methods with the use of real data and/or simulations with parameters (e.g., haplotype frequencies, effect sizes) that are based on a real data example (e.g., marker or haplotype data from the HapMap project). All novel computer programs must be made publicly available by the time that the manuscript is published, and a URL for the website must be included in the Web Resources section of the manuscript. Letters commenting on material previously published in AJHG are also welcome.AJHG does not publish reports of either single mutations or mutational surveys of previously identified loci unless they have unusual significance and substantial insight. Descriptions of new linkage assignments will be considered only if they are of special interest. Reports of negative data will not normally be considered.Visit the Cell Press website for more information about AJHG - http://www.cell.com/...