Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing of patients with rare diseases in a national health system

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown ae...

書誌詳細
主要な著者:	Turro, E, Astle, WJ, Megy, K, Bennett, DL, Ormondroyd, E, Roberts, I, Roy, NBA, Themistocleous, A, Watkins, H
その他の著者:	NIHR BioResource for the 100,000 Genomes Project
フォーマット:	Journal article
言語:	English
出版事項:	Springer Nature 2020

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