ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0021.4-13 | New Perspectives | ESPEYB21

4.13. Saturation genome editing of BAP1 functionally classifies somatic and germline variants

AJ Waters , T Brendler-Spaeth , D Smith , V Offord , HK Tan , Y Zhao , S Obolenski , M Nielsen , R van Doorn , JE Murphy , P Gupta , CF Rowlands , H Hanson , E Delage , M Thomas , EJ Radford , SS Gerety , C Turnbull , JRB Perry , ME Hurles , DJ Adams

Brief Summary: These authors performed exhaustive saturation genome editing (SGE) of BAP1 (BRCA1-associated protein 1), the disruption of which is linked to tumorigenesis and altered neurodevelopment. 18,108 unique variants were characterized, of which 6,196 were found to have abnormal functions. These were then used to evaluate phenotypic associations in the UK Biobank. BAP1 variants were also characterized in a large population-ascertained tumor collection,...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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