Shazia Mahamdallie

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance

Shazia Mahamdallie, Elise Ruark, Shawn Yost, 2018, Wellcome open research.

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

Nazneen Rahman, Gerton Lunter, Shazia Mahamdallie, 2015, Genome Medicine.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

Nazneen Rahman, Shazia Mahamdallie, Elise Ruark, 2018, Wellcome open research.

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

Shazia Mahamdallie, Elise Ruark, Anthony Renwick, 2018, Wellcome open research.

Clinical Annotation Reference Templates: a resource for consistent variant annotation

Nazneen Rahman, Shazia Mahamdallie, Elise Ruark, 2018, Wellcome Open Research.

Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer

Nazneen Rahman, Shazia Mahamdallie, Shawn Yost, 2019, JAMA network open.

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN

Nazneen Rahman, Anna Fowler, Gerton Lunter, 2016, Wellcome open research.