Preprints (not yet peer-reviewed)

41 downloads
118 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
119 downloads
398 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
153 downloads
469 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
128 downloads
384 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
95 downloads
208 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
499 downloads
1,898 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
293 downloads
999 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
95 downloads
295 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
200 downloads
534 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
383 downloads
457 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
130 downloads
657 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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