Publications Database

In December 2023, GP2 announced the sixth data release on the Terra and the Verily® Workbench platforms in collaboration with AMP® PD. This release includes >20,000 additional participants, adding to the previous releases from the Complex and Monogenic Networks [...]

In May 2023, GP2 announced the fifth data release on the Terra platform in collaboration with AMP® PD. This release includes 7,462 additional new complex disease participants and 487 new monogenic disease participants, adding to the previous releases from the Complex and Monogenic Networks [...]

Commercial genome-wide genotyping arrays have historically neglected coverage of genetic variation across populations.We aimed to create a multi-ancestry genome-wide array that would include a wide range of neuro-specific genetic content to facilitate genetic research in neurological disorders across multiple ancestral groups, fostering diversity and inclusivity in research studies.We developed the Illumina NeuroBooster Array (NBA), a custom high-throughput and cost-effective platform on a backbone of 1,914,934 variants from the Infinium Global Diversity Array and added custom content comprising 95,273 variants associated with more than 70 neurological conditions or traits, and we further tested its performance on more than 2000 patient samples. This novel platform includes approximately 10,000 tagging variants to facilitate imputation and analyses of neurodegenerative disease-related genome-wide association study loci across diverse populations.In this article, we describe NBA's potential as an efficient means for researchers to assess known and novel disease genetic associations in a multi-ancestry framework. [...]

With progressive digitalization of healthcare systems worldwide, large-scale collection of electronic health records (EHRs) has become commonplace. However, an extensible framework for comprehensive exploratory analysis that accounts for data heterogeneity is missing. [...]

Defects in the only human mitochondrial polymerase, the Polymerase Gamma (Polγ) encoded by the POLGgene, cause mitochondriopathies like Alpers Syndrome or MEMSA typically leading to medication resistant fatalseizures. Pathomechanistically, depletion of mitochondrial DNA leads to mitochondrial malfunction. [...]

Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset disease marked by a progressive degeneration of motor neurons (MNs) present in the spinal cord, brain stem and motor cortex. Death in most patients usually occurs within 2–4 years after symptoms onset. [...]