Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.

Autor: Andhika NS; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Biswas S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Hardcastle C; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Green DJ; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Ramsden SC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, UK., Black GC; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Sergouniotis PI; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, UK. panagiotis.sergouniotis@manchester.ac.uk.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 1005-1013. Date of Electronic Publication: 2024 Jun 07.