Nicholas B. Blackburn

Towards standards for analysing structural variants from short-read whole genome sequencing data

The paper benchmarks structural variant analysis tools on short-read WGS data, finding that ensemble pipelines significantly reduce accuracy compared to individual tools.

Global overview of sea turtle fibropapillomatosis tumors: a survey of expert opinions and trends.

This study surveys global experts on sea turtle fibropapillomatosis to assess disease trends, treatment approaches, and research needs.

Gluk4-containing kainate receptors regulate synaptic communication in the motor cortex and reduce axon degeneration in adult mice

Accurate Phasing of Pedigree Genotypes Using Whole Genome Sequence Data

This paper introduces PULSAR, a method for phasing genotypes in pedigrees using whole genome sequencing data, showing high accuracy and performance in simulations.