Laura Covill

AlphaGenome Atlas: in silico mutagenesis of the entire human genome improves prioritization and interpretation of non-coding variants

AlphaGenome Atlas predicts regulatory effects of non-coding variants across the human genome, improving their prioritization and interpretation.

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery

The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.

Antibody-mediated cellular responses are dysregulated in Multisystem Inflammatory Syndrome in Children (MIS-C)

This study identifies dysregulated antibody-mediated cellular responses in MIS-C, linking NK cell dysfunction to immune pathology and suggesting potential therapeutic interventions.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

In vivo visual screen for dopaminergic Rab {leftrightarrow} LRRK2-G2019S interactions in Drosophila discriminates Rab10 from Rab3

The paper uses an in vivo electroretinogram screen in Drosophila to identify Rab10 as a strong LRRK2-G2019S substrate in dopaminergic neurons, distinguishing it from Rab3.

Neurodegeneration caused by LRRK2-G2019S requires Rab10 in select dopaminergic neurons

This study identifies Rab10 as a critical mediator of LRRK2-G2019S-induced neurodegeneration in specific dopaminergic neurons, showing rescue of visual and motor deficits but not sleep dysfunction.