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Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

Archive ouverte | Vitobello, A. | CCSD

International audience

Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

Archive ouverte | Vitobello, A. | CCSD

International audience. Exome sequencing (ES) represents the first-tier diagnostic test in patients presenting with syndromic developmental delay with suspected monogenic etiology. Yet, about 50% of these patients r...

782 Detection of mosaic copy-number variation from whole-exome sequencing in mosaic cutaneous disorders using XHMM and custom SNP approach

Archive ouverte | Sorlin, A. | CCSD

IF 6.448 (2017). International audience

Chargement des enrichissements...