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Article

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.

Journal of medical genetics - 27 Nov 2023

Moore A Rachel, Yu Jing, Pei Yang, Cheng Emily W Y, Taylor Tavares Ana Lisa, Walker Woolf T, Thomas N Simon, Kamath Arveen, Ibitoye Rita, Josifova Dragana, Wilsdon Anna, Ross Alison, Calder Alistair D, Offiah Amaka C, Wilkie Andrew O M, Taylor Jenny C, Pagnamenta Alistair T

Abstract excerpt

BACKGROUND: Current clinical testing methods used to uncover the genetic basis of rare disease have inherent limitations, which can lead to causative pathogenic variants being missed. Within the rare disease arm of the 100 000 Genomes Project (100kGP), families were recruited under the clinical indication 'single autosomal recessive mutation in rare disease'. These participants presented with strong clinical...

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Identifiers

PMID: 37558402
DOI: 10.1136/jmg-2023-109362
PMCID: PMC10715503

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