Profil bibliographique

Arina Kopernik

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

3Publications signalées
12Citations signalées
1Affiliations récentes

Les institutions déclarées

Medical Technologies (Czechia)

Les domaines associés

Genomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesGenomics and Chromatin DynamicsCongenital heart defects researchMedical Imaging and Pathology Studies

Les publications récentes

Accès ouvert 2025 article OpenAlex

Sanger validation of WGS variants

Arina Kopernik, Mariia Sayganova, G.Yu. Zobkova, Natalia Doroschuk et autres

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 …

cz, ru (code pays fourni par la source)

4 citations Scientific Reports
Accès ouvert 2025 article OpenAlex

Quantitative Analysis of Pseudogene-Associated Errors During Germline Variant Calling

Artem Podvalnyi, Arina Kopernik, Mariia Sayganova, Mary V. Woroncow et autres

A pseudogene is a non-functional copy of a protein-coding gene. Processed pseudogenes, which are created by the reverse transcription of mRNA and subsequent integration of the resulting cDNA into the genome, being a major pseudogene class, represent a significant challenge in genome …

ru (code pays fourni par la source)

8 citations International Journal of Molecular Sciences
Accès ouvert 2024 preprint OpenAlex

Sanger validation of WGS variants - when to?

Arina Kopernik, G.Yu. Zobkova, Natalia Doroschuk, Anna Smirnova et autres

Abstract 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 …

ru, it (code pays fourni par la source)

0 citations bioRxiv (Cold Spring Harbor Laboratory)
Profil ORCIDNotice OpenAlex

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