Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia

Schizophrenia Working Group of the Psychiatric … - MedRxiv, 2020 - medrxiv.org
Schizophrenia is a psychiatric disorder whose pathophysiology is largely unknown. It has a
heritability of 60-80%, much of which is attributable to common risk alleles, suggesting …

[HTML][HTML] Persistent or transient human β cell dysfunction induced by metabolic stress: specific signatures and shared gene expression with type 2 diabetes

L Marselli, A Piron, M Suleiman, ML Colli, X Yi… - Cell Reports, 2020 - cell.com
Pancreatic β cell failure is key to type 2 diabetes (T2D) onset and progression. Here, we
assess whether human β cell dysfunction induced by metabolic stress is reversible, evaluate …

PWAS: proteome-wide association study—linking genes and phenotypes by functional variation in proteins

N Brandes, N Linial, M Linial - Genome biology, 2020 - Springer
Abstract We introduce Proteome-Wide Association Study (PWAS), a new method for
detecting gene-phenotype associations mediated by protein function alterations. PWAS …

The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome

M Dapas, A Dunaif - Current opinion in endocrine and metabolic research, 2020 - Elsevier
Polycystic ovary syndrome (PCOS) is a highly heritable disorder, but only a small proportion
of the heritability can be accounted for by common genetic risk variants identified to date. It is …

Epigenetic changes in islets of Langerhans preceding the onset of diabetes

M Ouni, S Saussenthaler, F Eichelmann, M Jähnert… - Diabetes, 2020 - Am Diabetes Assoc
The identification of individuals with a high risk of developing type 2 diabetes (T2D) is
fundamental for prevention. Here, we used a translational approach and prediction criteria to …

Resolving mechanisms of immune‐mediated disease in primary CD 4 T cells

C Bourges, AF Groff, OS Burren… - EMBO Molecular …, 2020 - embopress.org
Deriving mechanisms of immune‐mediated disease from GWAS data remains a formidable
challenge, with attempts to identify causal variants being frequently hampered by strong …

Improving the coverage of credible sets in Bayesian genetic fine-mapping

A Hutchinson, H Watson, C Wallace - PLoS computational biology, 2020 - journals.plos.org
Genome Wide Association Studies (GWAS) have successfully identified thousands of loci
associated with human diseases. Bayesian genetic fine-mapping studies aim to identify the …

Low blood pressure levels & incident stroke risk among elderly Ghanaians with hypertension

FS Sarfo, LM Mobula, T Adade… - Journal of the …, 2020 - Elsevier
Background Clinical trial data indicate that more intensive blood pressure (BP) lowering
below standard cut-off targets is associated with lower risks of strokes in the elderly. There is …

Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies

EG Atkinson, AX Maihofer, M Kanai, AR Martin… - BioRxiv, 2020 - biorxiv.org
Admixed populations are routinely excluded from medical genomic studies due to concerns
over population structure. Here, we present a statistical framework and software package …

Pwas: Proteome-wide association study

N Brandes, N Linial, M Linial - International Conference on Research in …, 2020 - Springer
Over the last two decades, Genome-Wide Association Study (GWAS) has become a
canonical tool for exploratory genetic research, generating countless gene-phenotype …