Gregory M. Findlay

Clinical validation of large-scale functional assays: insights from 2,120 gene-truthset-assay evaluations

The paper evaluates how different truthset strategies affect evidence points (EPs) in clinical validation of functional assays across 2,120 gene-truthset-assay combinations.

'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK)

The paper establishes consensus guidelines for constructing truthsets to validate functional assays in cancer variant interpretation, focusing on missense variants and clinical validation frameworks.

PETRA: Prime editing of transcribed regulatory elements to assay expression

PETRA quantifies regulatory variant effects by editing transcribed regions and measuring mRNA expression changes in human cells.

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk

This study uses saturation genome editing to assess BRCA1 variants across cell types, identifying functionally impactful variants and revealing context-dependent cancer risk.

Validating data from Multiplex Assays of Variant Effect (MAVEs): A CanVIG-UK National Survey of NHS Clinical Scientists

The paper surveys NHS clinical scientists on their acceptance of MAVE data validation, finding that trusted central bodies are needed for clinical adoption.

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.

High-throughput screening of human genetic variants by pooled prime editing

This paper introduces a pooled prime editing platform in haploid human cells to assess the functional effects of genetic variants, showing high accuracy in identifying loss-of-function variants and pathogenic non-coding variants.

Saturation Genome Editing Resolves the Functional Spectrum of Pathogenic VHL Alleles

This study uses Saturation Genome Editing to functionally assess VHL variants, identifying pathogenic alleles and their mechanisms in cancer.

spinDrop: a droplet microfluidic platform to maximise single-cell sequencing information content

spinDrop improves single-cell sequencing by reducing noise and increasing detection rates, enabling high-quality molecular atlases of mouse brain development and organogenesis.

Concurrent Genome and Epigenome Editing by CRISPR-Mediated Sequence Replacement

This study demonstrates concurrent genome and epigenome editing by CRISPR-mediated sequence replacement, showing that promoter methylation can functionally silence gene expression.

Accurate functional classification of thousands of BRCA1 variants with saturation genome editing

The paper functionally classifies thousands of BRCA1 variants using saturation genome editing to determine their impact on cancer risk.

Paired CRISPR/Cas9 guide-RNAs enable high-throughput deletion scanning (ScanDel) of a Mendelian disease locus for functionally critical non-coding elements

This paper introduces ScanDel, a CRISPR-based method to systematically delete non-coding regions of a gene locus, revealing that distal regulatory elements are not critical for HPRT1 function.