الباحثون

Elaine Doherty

المنشورات 2

مقال بحثي وصول مفتوح

Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis

Renate Marquis-Nicholson, Elaine Doherty, Jennifer M. Lan وآخرون · مجلة جامعة السلطان قابوس الطبية · 2025 · 10.18295/2075-0528.1432

Objectives: The aim of this study was to develop and validate a comparative genomic hybridisation (CGH) array that would allow simultaneous targeted analysis of a panel of disease genes and low resolution whole genome analysis. Methods: A bespoke Roche NimbleGen 12x135K CGH array (Roche NimbleGen Inc., Madison, Wiscons …

مقال بحثي وصول مفتوح

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

Stella Lai, Clare Brooke, Debra O. Lan وآخرون · مجلة جامعة السلطان قابوس الطبية · 2025 · 10.18295/2075-0528.1655

Objectives: Screening for mutations in large genes is challenging in a molecular diagnostic environment. Sanger-based DNA sequencing methods are largely used; however, massively parallel sequencing (MPS) can accommodate increasing test demands and financial constraints. This study aimed to establish a simple workflow t …

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