Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Akgun\\-Dogan, Ozlem; Bengur, Ecenur Tuc; Ay, Beril; Ozkose, Gulsah Sebnem; Kar, Emre; Bengur, Fuat Baris; Bulut, Aybike S.; Yigit, Ayca; Aydin, Eylul; Esen, Fatma Nisa; Ozdemir, Ozkan; Yesilyurt, Ahmet; Alanay, Yasemin

doi:10.3389/fgene.2024.1347474

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

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Impact of deep phenotyping high diagnostic yield in a diverse pediatric population of 172 patients through clinical.pdf (1.33 MB)

Date

2024

Authors

Akgun\\-Dogan, Ozlem

Bengur, Ecenur Tuc

Ay, Beril

Ozkose, Gulsah Sebnem

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10.3389/fgene.2024.1347474

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WOS:001193119300001

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FRONTIERS MEDIA SA

DOI

10.3389/fgene.2024.1347474

Keywords

whole\\-genome sequencing , first tier , diagnostic yield , undiagnosed patients , pediatric geneticist

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https://openaccess.acibadem.edu.tr/handle/11443/5891

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Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

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