A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Wallerian degeneration is a widespread mechanism of programmed axon degeneration. In
the three decades since the discovery of the Wallerian degeneration slow (Wld S) mouse …

Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown. The age-related acquisition of …

One of the most pressing challenges in genomic medicine is to understand the role played
by genetic variation in health and disease. Thanks to the exploration of genomic variants at …

A newly described coronavirus named severe acute respiratory syndrome coronavirus 2
(SARS-CoV-2), which is the causative agent of coronavirus disease 2019 (COVID-19), has …

Abstract The Ensembl (https://www. ensembl. org) is a system for generating and distributing
genome annotation such as genes, variation, regulation and comparative genomics across …

Radiologic screening of high-risk adults reduces lung-cancer-related mortality,; however, a
small minority of eligible individuals undergo such screening in the United States,. The …

A high tumour mutational burden (hypermutation) is observed in some gliomas,,,–; however,
the mechanisms by which hypermutation develops and whether it predicts the response to …

As the outbreak of coronavirus disease 2019 (COVID-19) progresses, prognostic markers for
early identification of high-risk individuals are an urgent medical need. Italy has one of the …

Abstract Tumor protein p53 (TP53) is the most frequently mutated gene in cancer,. In
patients with myelodysplastic syndromes (MDS), TP53 mutations are associated with high …