Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

Orkney was a major cultural center during the Neolithic, 3800 to 2500 BC. Farming
flourished, permanent stone settlements and chambered tombs were constructed, and long …

Haplotype-based analyses have recently been leveraged to interrogate the fine-scale
structure in specific geographic regions, notably in Europe, although an equivalent …

SARS-CoV-2 utilizes the angiotensin-converting enzyme 2 (ACE2) receptor and
transmembrane serine protease (TMPRSS2) to infect human lung cells. Previous studies …

We examined more than 97,000 families from four neurodevelopmental disease cohorts and
the UK Biobank to identify phenotypic and genetic patterns in parents contributing to …

NHS genetics centres in Scotland sought to investigate the Genomics England 100,000
Genomes Project diagnostic utility to evaluate genome sequencing for in rare, inherited …

Background Genetic diversity and heterogeneous genomic signatures in marine fish
populations may result from selection pressures driven by the strong effects of …

Orkney and Shetland, the population isolates that make up the Northern Isles of Scotland,
are of particular interest to multiple sclerosis (MS) research. While MS prevalence is high in …

Rare variant association tests (RVAT) have been developed to study the contribution of rare
variants widely accessible through high-throughput sequencing technologies. RVAT require …

Objective To test the genetic contribution of rare missense variants in COL4A1 and COL4A2
in which common variants are genetically associated with sporadic intracerebral …