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Article

Secondary findings in 622 Turkish clinical exome sequencing data.

Journal of human genetics - 1 Nov 2021

Arslan Ateş Esra, Türkyilmaz Ayberk, Yıldırım Özlem, Alavanda Ceren, Polat Hamza, Demir Şenol, Çebi Alper Han, Geçkinli Bilgen Bilge, Güney Ahmet İlter, Ata Pınar, Arman Ahmet

Abstract excerpt

CES (Clinical Exome Sequencing) is a method that we use to diagnose rare diseases with nonspesific clinical features. Besides primary indication for testing genetic information may be detected about diseases which have not yet emerged. ACMG guidelines recommend to report pathogenic variations in medically actionable 59 genes. In this study we evaluated CES data of 622 cases which were tested for various...

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PMID: 34050257
DOI: 10.1038/s10038-021-00936-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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