Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Purpose Genome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses challenges for developing pipelines with high diagnostic sensitivity. We evaluated the performance of the Genomics England 100,000 Genomes Project (100kGP) p...

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Veröffentlicht in:	Genetics in medicine 2021-12, Vol.23 (12), p.2360-2368
Hauptverfasser:	Hyder, Zerin, Calpena, Eduardo, Pei, Yang, Tooze, Rebecca S., Brittain, Helen, Twigg, Stephen R. F., Cilliers, Deirdre, Morton, Jenny E. V., McCann, Emma, Weber, Astrid, Wilson, Louise C., Douglas, Andrew G. L., McGowan, Ruth, Need, Anna, Bond, Andrew, Tavares, Ana Lisa Taylor, Thomas, Ellen R. A., Hill, Susan L., Deans, Zandra C., Boardman-Pretty, Freya, Caulfield, Mark, Scott, Richard H., Wilkie, Andrew O. M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Biomedical and Life Sciences Biomedicine Birth defects Chromosome Mapping Craniosynostoses - diagnosis Craniosynostoses - genetics Genetic disorders Genetic Testing Genomes Human Genetics Humans Laboratory Medicine Rare Diseases - genetics
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