Mark A Corbett

This paper introduces KIML, a machine learning framework that integrates experimental data with biological knowledge to improve disease gene prioritisation, showing better performance than existing methods.

The paper identifies a chimeric CLMN::SYNE3 RNA transcript from a 14q32.13 duplication as the cause of SCA30, a form of cerebellar ataxia, through RNA-Seq and functional studies.

The paper generates a single-copy humanized DMD mouse model by deleting a duplicated transgene to improve the accuracy of CRISPR therapy testing.

This study evaluates optical genome mapping (OGM) for detecting STR repeat expansions and somatic instability, showing high accuracy and efficiency compared to current methods.