Article

Genetic association analysis of 269 rare diseases reveals novel aetiologies

2022-06-14

Abstract excerpt

The genetic aetiologies of more than half of rare diseases remain unknown 1 . Standardised genome sequencing (GS) and phenotyping of large patient cohorts provides an opportunity for discovering the unknown aetiologies 2 , but this depends on efficient and powerful analytical methods 3 . We have developed a portable computational and statistical framework for inferring genetic associations with rare diseases. At i...

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Literature Corpus work: acc1ddea-6758-5b57-8086-c43e7eb098f8
DOI: 10.1101/2022.06.10.22276270

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