NIPT Technique Based on the Use of Long Chimeric DNA Reads.

Non-invasive prenatal testing (NIPT) for aneuploidy on Chromosomes 21 (T21), 18 (T18) and 13 (T13) is actively used in clinical practice around the world. One of the limitations of the wider implementation of this test is the high cost of the analysis itself, as high-throughput sequencing is still relatively expensive. At the same time, there is an increasing trend in the length of reads yielded by sequencers.

[A bioinformatic pipeline for NGS data analysis and mutation calling in human solid tumors].

We aimed to develop a pipeline for the bioinformatic analysis and interpretation of NGS data and detection of a wide range of single-nucleotide somatic mutations within tumor DNA. Initially, the NGS reads were submitted to a quality control check by the Cutadapt program. Low-quality 3¢-nucleotides were removed.

[Identification of European (Capreolus capreolus L.) and Siberian (C. pygargus Pall.) roe deer hybrids by microsatellite marker analysis].

An analysis of 130 tissue specimens of the European (Capreolus capreolus) and the Siberian (C. pygargus) roe deer from nine regions of Russia and Ukraine using microsatellite loci analysis was conducted, aimed at the identification of hybrid animals. An optimized complex of 21 microsatellite loci was selected for the determination of species specificity and the search for interspecies hybrids.