Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
Damla Eker, Hakan Gurkan, Yasemin Karal, Sinem Yalcintepe, Selma Demir et al.
DetailsDamla Eker, Hakan Gurkan, Yasemin Karal, Sinem Yalcintepe, Selma Demir et al.
DetailsB. G. Kina, N. F. Topbas Selcuki, P. Yalcin Bahat, T. Usta, F. N. Tuncer, and E. Oral
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DetailsTayfun Cinleti, Ceren Yılmaz Uzman, Şefika Akyol, Özlem Tüfekçi, Murat Derya Erçal and Özlem Giray Bozkaya
DetailsMurat Erdoğan, Mehmet Köse, Sevgi Pekcan, Melih Hangül, Burhan Balta et al.
DetailsSinem Yalçıntepe, Işık Göker, Selma Demir, Emine İkbal Atlı, Engin Atlı et al.
DetailsDelve into the impact of sequencing depth and cohort size on NGS CNV analysis, exploring the relationship between these factors and the sensitivity and specificity of detecting copy number variations in genetic studies.
DetailsCeren Tunca, Tuncay Şeker, Fulya Akçimen, Cemre Coşkun, Robin Palvadeau et al.
DetailsDiscover SEQ’s Automated Variant Classification Tool, which incorporates ACMG’s Standards and Guidelines, and learn how the additional VUS+ and VUS++ classifications can improve variant interpretation and prioritization.
DetailsAslihan Sanri, Hakan Gurkan and Selma Demir
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