A study to identify how to improve diagnosis of the rare condition adenylosuccinate lyase (ADSL) deficiency, has created a framework which could be adapted for other recessive diseases.

Abstract. Noncoding single-nucleotide variants (SNVs) that alter transcription factor (TF) binding can affect gene expression and contribute to disease. Se

PhD Project - EASTBIO - Dissecting CIC::DUX4 oncogenic circuitry through single-cell perturbation profiling and network inference at University of Edinburgh, listed on FindAPhD.com

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A genome-wide variant effect calibration method was recently developed under the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/A...

Genetic variants can cause protein-coding mutations that result in disease. Variants are typically interpreted using the reference transcript for a gene. However, most human multi-exon genes encode al...

PhD Project - Fully Funded PhD Studentship in Human Genetics, Genomics and Disease: Dissecting DNMT3B functions in Immunodeficiency-centromeric instability facial anomalies syndrome at University of E...

Molecular disease mechanisms caused by mutations in protein-coding regions are diverse, but they can be broadly categorised into loss-of-function (LOF), gain-of-function (GOF), and dominant-negative (...

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