Biology subjects

Tatarinova, T. V.

Publications and source records attributed to Tatarinova, T. V..

5 recordsLinked to original sources

bioRxiv2025

Robust software development practices improve citations of RNA-seq tools

RNA sequencing (RNA-seq) has emerged as an exemplary technology in biology and clinical applications, offering a crucial complement to other transcriptomic profiling protocols due to its high sensitivity, precision, and accuracy in characterizing transcriptomes. However, the rapid proliferation of RNA-seq tools necessitates the adoption of robust software development practices. Such development underscores the critical need to examine how RNA-seq tools are developed, maintained, and distributed; and whether the data they generate is reproducible as all of these factors are essential for ensuring software reliability, transparency, and trust in scientific findings. We conducted a comprehensive assessment of 434 RNA-seq tools developed between 2008 and 2024, categorizing them based on the type of analysis they perform. Our evaluation encompassed their software development and distribution methodologies, as well as the attributes contributing to their widespread adoption and dependability within the biomedical community, which were quantified by factors such as package manager availability, containerization, multithreading support, documentation quality, and inclusion of example datasets. Our findings establish the first documented positive association between rigorous software development practices and their adoption of published RNA-seq tools as measured by citations (Mann-Whitney U test, p-value = 4.9 x 10-26). By identifying key characteristics of widely adopted software, our findings guide developing robust and user-friendly RNA-seq tools, thereby reinforcing the call for rigorous community-wide standards.

bioinformatics↗

bioRxiv2020

Local Ancestry Prediction with PyLAE

SummaryWe developed PyLAE - a new tool for determining local ancestry along a genome using whole-genome sequencing data or high-density genotyping experiments. PyLAE can process an arbitrarily large number of ancestral populations (with or without an informative prior). Since PyLAE does not involve estimation of many parameters, it can process thousands of genomes within a day. Computational efficiency, straightforward presentation of results, and an ease of installation makes PyLAE a useful tool to study admixed populations. Availability and implementationThe source code and installation manual are available at https://github.com/smetam/pylae.

bioinformatics↗

bioRxiv2020

Human library of cardiac promoters and enhancers

Genome regulatory elements play a critical role during cardiac development and maintenance of normal physiological homeostasis, and genome-wide association studies identified a large number of SNPs associated with cardiovascular diseases localized in intergenic zones. We used cap analysis of gene expression (CAGE) to identify transcription start sites (TSS) with one nucleotide resolution that effectively maps genome regulatory elements in a representative collection of human heart tissues. Here we present a comprehensive and fully annotated CAGE atlas of human promoters and enhancers from four chambers of the non-diseased human donor hearts, including both atria and ventricles. We have identified 10,528 novel regulatory elements, where 2,750 are classified as TSS and 4,258 novel enhancers, which were validated with ChIP-seq libraries and motif enrichment analysis. We found that heart-region specific expression patterns are primarily based on the alternative promoter and specific enhancer activity. Our study significantly increased evidence of the association of regulatory elements-located variants with heart morphology and pathologies. The precise location of cardiac disease-related SNPs within the regulatory regions and their correlation with a specific cell type offers a new understanding of genetic heart diseases.

genomics↗

bioRxiv2019

Diverse genetic origins of medieval steppe nomad conquerors

Over millennia, steppe nomadic tribes raided and sometimes overran settled Eurasian civilizations. Most polities formed by steppe nomads were ephemeral, making it difficult to ascertain their genetic roots or what present-day populations, if any, have descended from them. Exceptionally, the Khazar Khaganate controlled the trade artery between the Black and Caspian Seas in VIII-IX centuries, acting as one of the major conduits between East and West. However, the genetic identity of the ruling elite within the polyglot and polyethnic Khaganate has been a much-debated mystery; a controversial hypothesis posits that post-conversion to Judaism the Khazars gave rise to modern Ashkenazim. We analyzed whole-genome sequences of eight men and one woman buried within the distinctive kurgans of the Khazar upper (warrior) class. After comparing them with reference panels of present-day Eurasian and Iron Age populations, we found that the Khazar political organization relied on a polyethnic elite. It was predominantly descended from Central Asian tribes but incorporated genetic admixture from populations conquered by Khazars. Thus, the Khazar ruling class was likely relatively small and able to maintain a genetic identity distinct from their subjugated populations over the course of centuries. Yet, men of mixed ancestry could also rise into the warrior class, possibly providing troop numbers necessary to maintain control of their large territory. However, when the Khaganate collapsed it left few persistent genetic traces in Europe. Our data confirm the Turkic roots of the Khazars, but also highlight their ethnic diversity and some integration of conquered populations.View Full Text

paleontology↗

bioRxiv2017

Evidence-based gene models for structural and functional annotations of the oil palm genome

The advent of rapid and inexpensive DNA sequencing has led to an explosion of data that must be transformed into knowledge about genome organization and function. Gene prediction is customarily the starting point for genome analysis. This paper presents a bioinformatics study of the oil palm genome, including a comparative genomics analysis, database and tools development, and mining of biological data for genes of interest. We annotated 26,087 oil palm genes integrated from two gene-prediction pipelines, Fgenesh++ and Seqping. As case studies, we conducted comprehensive investigations on intronless, resistance and fatty acid biosynthesis genes, and demonstrated that the current gene prediction set is of high quality. 3,672 intronless genes were identified in the oil palm genome, an important resource for evolutionary study. Further scrutiny of the oil palm genes revealed 210 candidate resistance genes involved in pathogen defense. Fatty acids have diverse applications ranging from food to industrial feedstock, and we identified 42 key genes involved in fatty-acid biosynthesis in oil palm mesocarp and kernel. These results provide an important resource for studies on plant genomes and a theoretical foundation for marker-assisted breeding of oil palm and related crops.

bioinformatics↗