Whitney Whitford

Protocol for designing and interpreting minigene assays to validate candidate splice altering variants

This paper presents a protocol for minigene assays to validate splice-altering variants using locus-specific design, gene synthesis, and long-read sequencing.

Optimised multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

The paper develops a multiplexing assay for MinION sequencing to identify genetic variants in small genomic regions, achieving accurate results for most targets despite sequencing biases.

RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions

RBV prioritises and validates copy number variations using read balance from genome or exome sequencing data.

Identifying, understanding, and correcting technical biases on the sex chromosomes in next-generation sequencing data

This paper identifies and corrects technical biases on sex chromosomes in sequencing data using a new tool called XYalign.

Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data

This study evaluates CNV detection tools for deletions in WGS data, finding Breakdancer and Delly perform best with high sensitivity and moderate FDR.