Exome Genome Sequencing in Undiagnosed Syndromes

Exome sequencing (ES) and genome sequencing (GS) have radically transformed the diagnostic approach to undiagnosed rare ultrarare Mendelian diseases. Next-generation sequencing (NGS), the technology integral for ES, GS, and most large (100+) gene panels, has enabled previously unimaginable diagnoses...

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Veröffentlicht in:	Annual review of medicine 2023-01, Vol.74 (1), p.489-502
Hauptverfasser:	Sullivan, Jennifer A, Schoch, Kelly, Spillmann, Rebecca C, Shashi, Vandana
Format:	Artikel
Sprache:	eng
Schlagworte:	Exome - genetics Exome Sequencing Genetic Testing - methods genome sequencing Genomes High-Throughput Nucleotide Sequencing Humans Mendelian diseases Next-generation sequencing Rare Diseases - diagnosis Rare Diseases - genetics rare ultrarare diseases undiagnosed diseases
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