Establishment of best practices for evidence for prediction: a review

RA Poldrack, G Huckins, G Varoquaux - JAMA psychiatry, 2020 - jamanetwork.com
Importance Great interest exists in identifying methods to predict neuropsychiatric disease
states and treatment outcomes from high-dimensional data, including neuroimaging and …

[HTML][HTML] Biomarkers in psychiatry: concept, definition, types and relevance to the clinical reality

MS García-Gutiérrez, F Navarrete, F Sala… - Frontiers in …, 2020 - frontiersin.org
During the last years, an extraordinary effort has been made to identify biomarkers as
potential tools for improving prevention, diagnosis, drug response and drug development in …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

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 …

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

X Yin, LS Chan, D Bose, AU Jackson… - Nature …, 2022 - nature.com
Few studies have explored the impact of rare variants (minor allele frequency< 1%) on
highly heritable plasma metabolites identified in metabolomic screens. The Finnish …

[PDF][PDF] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen… - Cell, 2020 - cell.com
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Minimal phenotyping yields genome-wide association signals of low specificity for major depression

N Cai, JA Revez, MJ Adams, TFM Andlauer, G Breen… - Nature …, 2020 - nature.com
Minimal phenotyping refers to the reliance on the use of a small number of self-reported
items for disease case identification, increasingly used in genome-wide association studies …

A pangenome reference of 36 Chinese populations

Y Gao, X Yang, H Chen, X Tan, Z Yang, L Deng… - Nature, 2023 - nature.com
Human genomics is witnessing an ongoing paradigm shift from a single reference sequence
to a pangenome form, but populations of Asian ancestry are underrepresented. Here we …

Genome-wide association study identifies 30 loci associated with bipolar disorder

EA Stahl, G Breen, AJ Forstner, A McQuillin, S Ripke… - Nature …, 2019 - nature.com
Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide
association study (GWAS) including 20,352 cases and 31,358 controls of European descent …