Publications by authors named "Tatyana 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.
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- 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.
Article Synopsis
- Pregnancy loss is a common and devastating complication during pregnancy, with genetic factors playing a significant role, yet over 30% of causes remain unexplained.
- This review synthesizes a decade's worth of research on genetic risk factors for pregnancy loss, identifying 270 genetic variants across 196 unique genes linked to the condition.
- The findings highlight that many of these genes are evolutionarily conserved and involved in essential developmental processes, providing a basis for predicting pregnancy loss risk and guiding future genetic studies.
Article Synopsis
- * Our study analyzed data on genetic variants and Mendelian disease, finding that genes associated with multiple rare diseases are more constrained and usually express more transcripts across various tissues.
- * We found that while variant localization and type affect phenotype, they don't fully explain gene-disease relationships; further research is needed to understand other contributing factors to phenotypic heterogeneity.
Introduction: Normocalcemic primary hyperparathyroidism is a variant of primary hyperparathyroidism with consistently normal albumin-adjusted or free-ionized calcium levels. It may be an early stage of classic primary hyperparathyroidism or could represent primary kidney or bone disorder characterized by permanent elevation of PTH level.
Aim Of The Study: The study aims to compare the FGF-23 levels in patients with PHPT, NPHPT, and normal calcium and PTH levels.
Article Synopsis
- Significant advancements in collecting, storing, and analyzing biological samples have led to the establishment of large biobanks worldwide, some housing over a million samples alongside clinical data.
- Biobanks play a crucial role in medical genetics and genomics by offering allele frequency information and enabling large-scale studies across different ancestries.
- Recently, combining data from multiple biobanks has enhanced research capabilities, allowing for more robust genetic association findings, though researchers must be mindful of certain limitations in this trans-biobank approach.
Damping of surface waves due to crude oil/oil emulsion films on water.
Mar Pollut Bull
September 2019
In this paper results of laboratory studies of damping of gravity-capillary waves due to emulsified oil films (EOF) are presented and compared to crude oil films (COF). A laboratory method based on measuring the damping coefficient and the length of parametrically generated gravity-capillary waves is applied to a 50% EOF and to crude oil films. Measurements of wave damping were carried out in a range of surface wave lengths, corresponding to Bragg waves of X- to Ka-band radars.
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