The personal and clinical utility of polygenic risk scores
A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …
promised to rapidly transform personalized medicine with individualized disease risk …
The biological contributions to gender identity and gender diversity: bringing data to the table
TJC Polderman, BPC Kreukels, MS Irwig, L Beach… - Behavior genetics, 2018 - Springer
Abstract The American Psychological Association defines gender identity as,“A person's
deeply-felt, inherent sense of being a boy, a man, or a male; a girl, a woman, or a female; or …
deeply-felt, inherent sense of being a boy, a man, or a male; a girl, a woman, or a female; or …
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown.
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …
[PDF][PDF] Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes
DM Ruderfer, S Ripke, A McQuillin, J Boocock… - Cell, 2018 - cell.com
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology.
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …
Environment dominates over host genetics in shaping human gut microbiota
Human gut microbiome composition is shaped by multiple factors but the relative
contribution of host genetics remains elusive. Here we examine genotype and microbiome …
contribution of host genetics remains elusive. Here we examine genotype and microbiome …
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
We introduce an approach to identify disease-relevant tissues and cell types by analyzing
gene expression data together with genome-wide association study (GWAS) summary …
gene expression data together with genome-wide association study (GWAS) summary …
[HTML][HTML] Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood
Understanding the difference in genetic regulation of gene expression between brain and
blood is important for discovering genes for brain-related traits and disorders. Here, we …
blood is important for discovering genes for brain-related traits and disorders. Here, we …
[HTML][HTML] A population genetic interpretation of GWAS findings for human quantitative traits
Human genome-wide association studies (GWASs) are revealing the genetic architecture of
anthropomorphic and biomedical traits, ie, the frequencies and effect sizes of variants that …
anthropomorphic and biomedical traits, ie, the frequencies and effect sizes of variants that …
[HTML][HTML] The search for gene-gene interactions in genome-wide association studies: challenges in abundance of methods, practical considerations, and biological …
MD Ritchie, K Van Steen - Annals of translational medicine, 2018 - ncbi.nlm.nih.gov
One of the primary goals in this era of precision medicine is to understand the biology of
human diseases and their treatment, such that each individual patient receives the best …
human diseases and their treatment, such that each individual patient receives the best …
[HTML][HTML] An integrative approach for building personalized gene regulatory networks for precision medicine
Only a small fraction of patients respond to the drug prescribed to treat their disease, which
means that most are at risk of unnecessary exposure to side effects through ineffective …
means that most are at risk of unnecessary exposure to side effects through ineffective …