Biology subjects

Albert, E.

Publications and source records attributed to Albert, E..

3 recordsLinked to original sources

bioRxiv2024

Sanger validation of WGS variants - when to?

With the development of Next-Generation Sequencing (NGS) technologies it became possible to simultaneously analyze millions of variants. Despite the quality improvement it is generally still required to confirm the variants before reporting. However, in recent years the dominant idea is that one could define the quality thresholds for "high quality" variants which do not require orthogonal validation. Despite that, no works to date report the concordance between variants from whole genome sequencing and their gold-standard Sanger validation. In this study we analyzed the concordance for 1756 WGS variants in order to establish the appropriate thresholds for high-quality variants filtering. Resulting thresholds allowed us to drastically reduce the number of variants which require validation, to 5,6% and 1.2% of the initial set for caller-agnostic thresholds and caller-dependent QUAL threshold respectively.

genomics↗

bioRxiv2024

Comparative framework and adaptation of ACME HS approach to single cell isolation from fresh-frozen endocrine tissues

Current scRNA-seq studies of solid tissues mostly rely on enzymatic dissociation of fresh samples or the fallback on nuclei isolation from frozen or partially fixed samples. However, due to the complex tissue organization or cell fragility, it could be challenging to apply these approaches to the sensitive endocrine tissues. That is, dissociating intact cells from such problematic fresh-frozen samples routinely collected by biobanks remains challenging. In this study, we adapted the acetic-methanol dissociation method - ACME High Salt (ACME HS) to effectively isolate intact single cells from fresh-frozen endocrine tumor samples, including adrenal gland neoplasms, thyroid carcinomas, and pituitary neuroendocrine tumors. We compared the ability of enzymatic, ACME HS, and nuclear isolation methods to preserve the integrity of major cell types and gene expression across 41 tissue samples of different origins. We demonstrated that ACME HS simultaneously dissociates and fixes cells, thus preserving morphology and a high RNA integrity number in problematic cell types. This finding renders the ACME HS dissociation method a valuable alternative in scRNA-seq protocols for challenging tissues where obtaining live cell suspension is difficult or impossible.

genomics↗

bioRxiv2023

Dark side of the honeymoon: reconstructing the Asian x European rose breeding history through the lens of genomics

O_LIRoses hold significant symbolic value in Western cultural heritage, often serving as a symbol of love and romance. Despite their ancient cultivation, the appreciation for the phenotypic diversity of roses emerged relatively recently, notably during the 19th century. This period is characterized by a remarkable expansion in the number of varieties, from around 100 to over 8,000, representing a golden age for roses. C_LIO_LITo trace the history of rose breeding in Europe and unveil genetic changes during this period, we gathered phenotypic and genetic data from 204 accessions. These included botanical roses and varieties cultivated between 1800 and 1910. Whole-genome sequences from 32 accessions were also included. C_LIO_LIOur analysis revealed a temporal shift in the genetic makeup, transitioning from a historical European to a near-Asian genetic background within a few generations. This shift was accompanied by a notable reduction in genetic diversity, attributed to the backcrossing with the less diverse Asian genepool, plus some genomic signatures of selection. C_LIO_LIWe have generated the largest GWAS catalog for rose to date, offering a valuable resource for future breeding initiatives. We emphasize the critical importance of preserving ancient rose collections to safeguard diversity and ensure a sustainable breeding for the long term. C_LI

genomics↗