Elizaveta Bondarchuk

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 …

ru (code pays fourni par la source)

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 (code pays fourni par la source)

RARE TYPES OF EHLERS-DANLOS SYNDROME IN PEDIATRIC PRACTICE

Ekaterina Alexandrovna Nikolaeva, Alla Nikolaevna Semyachkina, Ilya S. Dantsev, Elizaveta Bondarchuk et autres

Clinical observations of patients with arthrochalasia and classical-like types of Ehlers-Danlos syndrome (EDS) caused by mutations in the COL1A2 and TNXB genes, respectively, are presented in the article. These genes are involved in the organization of the correct structure and function of …