Assays for gamma-glutamyl transferase (GGT1, EC 2.3.2.2) activity in blood are widely used
in a clinical setting to measure tissue damage. The well-characterized GGT1 is an …

With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …

The HUGO Gene Nomenclature Committee (HGNC) aims to assign a unique and ideally
meaningful name and symbol to every human gene. The HGNC database currently comprises …

The HUGO Gene Nomenclature Committee (HGNC) aims to give every human gene a
unique and ideally meaningful name and symbol. The HGNC database, previously known as …

The International Human Genome Sequencing Consortium (IHGSC) recently completed a
sequence of the human genome 1 . As part of this project, we have focused on chromosome 8…

The increasing availability of sequencing has accelerated the discovery of genetic causes
of kidney disease, with clear benefits for patients. However, insufficient or contradictory …

With the launch of GigaScience journal, here we provide insight into the accompanying
database Giga DB, which allows the integration of manuscript publication with supporting data …

When the road map for sequencing the human genome was laid out, the study of genetic
variation was deemed a critical component1, with the mapping of SNPs initially being a priority. …

Often papers are published where the underlying data supporting the research are not
made available because of the limitations of making such large data sets publicly and …

Purpose Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and
autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them …