Preprints (not yet peer-reviewed)

89 downloads
405 views

Background. Type 2 diabetes, a chronic disease to which susceptibility is hereditary, is characterized by insulin resistance accompanied by defective insulin secretion. Mouse models, especially transgenic mice, play an important role in medical research. However,...

["Agricultural Science","Biotechnology","Diabetes and Endocrinology","Histology","Medical Genetics"]
doi:10.7287/peerj.preprints.3437v1
5,787 downloads
230 views

Biological databases are of great importance for managing biological research data. Building databases has been a code-based process that requires integrative coding skills of different languages. Herein, we present a code-free pipeline that helps biologists to...

["Bioinformatics","Cardiology","Medical Genetics","Data Science"]
doi:10.7287/peerj.preprints.3189v1
204 downloads
541 views

The Ebola virus, a negative-sense single-stranded RNA virus, causes severe viral hemorrhagic fever and is highly lethal. Histopathology and immunopathologic study of Ebola virus have revealed that histopathologic changes in skin tissue were mainly various degrees...

["Bioinformatics","Microbiology","Infectious Diseases","Medical Genetics"]
doi:10.7287/peerj.preprints.2959v1
521 downloads
453 views

Colony counting to estimate colony forming units (CFUs) is a standard microbiology procedure used for determining the number of viable microbes in a system. Typically this process is done manually, which is time consuming, tedious, and sometimes error prone. Alternate...

["Microbiology","Medical Genetics","Computational Science"]
doi:10.7287/peerj.preprints.2792v1
311 downloads
757 views

Mutation processes differ between types of point mutation, genomic locations, cells, and biological species. For some point mutations, specific neighbouring bases are known to be mechanistically influential. Beyond these cases, numerous questions remain unresolved...

["Bioinformatics","Evolutionary Studies","Genetics","Medical Genetics"]
doi:10.7287/peerj.preprints.2236v3
291 downloads
811 views

Resolving ethical and legal concerns is a time consuming but rarely insurmountable task when obtaining samples from biobanks. The BBMRI-LPC project has throughout its lifetime resolved numerous such issues and intense communication between involved researchers...

["Genomics","Ethical Issues","Legal Issues","Science and Medical Education","Medical Genetics"]
doi:10.7287/peerj.preprints.2091v2
433 downloads
894 views

Identification of appropriate reference genes (RGs) is critical to accurate data interpretation in quantitative real-time PCR (qPCR) experiments. In this study, we have utilised next generation RNA-sequencing (RNA-seq) to analyse the transcriptome of a panel of...

["Genomics","Molecular Biology","Dermatology","Oncology","Medical Genetics"]
doi:10.7287/peerj.preprints.2331v1
159 downloads
342 views

Background : Fetal malformations and other structural abnormalities are relatively frequent findings in the course of routine prenatal ultrasonographic examination. Due to their considerable genetic and clinical heterogeneity, the underlying genetic cause is often...

["Genetics","Genomics","Medical Genetics"]
doi:10.7287/peerj.preprints.1811v1
1,145 downloads
3,528 views

The scientific and medical community is reaching an era of inexpensive whole genome sequencing, opening the possibility of precision medicine for millions of individuals. Here we present tiling: a flexible representation of whole genome sequences that supports...

["Genomics","Medical Genetics"]
doi:10.7287/peerj.preprints.1426v1
357 downloads
1,426 views

Transient Receptor Potential subfamily Melastatin member 8 (TRPM8) is involved in detection of cold temperature and different noxious compounds, execute thermo- as well as chemo-sensitive responses at cellular levels. Here we explored the molecular evolution of...

["Cell Biology","Evolutionary Studies","Genetics","Genomics","Medical Genetics"]
doi:10.7287/peerj.preprints.440v1
128 downloads
414 views

Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions and splice...

["Genetics","Medical Genetics","Otorhinolaryngology","Pathology","Pediatrics"]
doi:10.7287/peerj.preprints.275v1
243 downloads
688 views

Pioneered by companies like 23andMe.com, deCODEme.com, and Navigenics.com, direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers via television, print media, or the Internet. This kind of testing provides access to a...

["Genetics","Medical Genetics","Ethical Issues","Science and Medical Education"]
doi:10.7287/peerj.preprints.242v1
426 downloads
591 views

Purpose. To design and validate a prenatal chromosome microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection...

["Medical Genetics","Ethical Issues"]
doi:10.7287/peerj.preprints.221v1
165 downloads
902 views

Background. Natural selection operates on genetically influenced phenotypic variations that confer differential survival or reproductive advantages. Common diseases are frequently associated with increased mortality and disability and complex heritable factors...

["Evolutionary Studies","Genetics","Medical Genetics","Public Health"]
doi:10.7287/peerj.preprints.42v1
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