Publications by authors named "T A Lazareva"
Article Synopsis
- * A study using ClinVar data found that 5.7% of genetic variants have conflicting interpretations, mainly among variants of uncertain significance (VUS), affecting the diagnosis of rare diseases.
- * The research highlights that genes with high rates of conflicting interpretations are often associated with serious conditions like cardiac disorders and suggests that consistent interpretation rules and better reporting of variant evidence could improve diagnosis accuracy.
Ganglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal storage disorder caused by mutations in the gene that lead to the absence or insufficiency of β-galactosidase. In this study, we report a case of a Russian family with a history of GM1 gangliosidosis.
View Article and Find Full Text PDFThe production of the ψ(2S) charmonium state was measured with ALICE in Pb-Pb collisions at sqrt[s_{NN}]=5.02 TeV, in the dimuon decay channel. A significant signal was observed for the first time at LHC energies down to zero transverse momentum, at forward rapidity (2.
View Article and Find Full Text PDFArticle Synopsis
- Next-generation sequencing (NGS) has transformed rare disease diagnostics, yet the diagnosis rate is still lower than anticipated despite using whole exome and genome sequencing.
- * Challenges in NGS data analysis include issues with the reference genome quality, coverage bias, and accuracy in detecting variants, especially in complex genomic regions.
- * The paper emphasizes the difficulties in annotating and interpreting genetic variants, particularly for coding and non-coding regions, while pointing towards future research to improve the effectiveness of NGS in diagnosing diseases.*
Article Synopsis
- - Male infertility, particularly linked to poor semen quality, is found in roughly 50% of infertile couples, with specific CFTR gene variants being common causes of azoospermia.
- - This study analyzed the allele frequency of 12 CFTR variants in fertile and infertile men across different regions of Russia, using data from a CF patient registry and local biocollections.
- - Findings revealed significant regional differences in CFTR variant frequencies, confirming that certain variants like F508del and CFTRdele2,3(21kb) are more prevalent in infertile patients compared to healthy individuals, highlighting the need for genetic monitoring in Russian populations.