Long-read human genome sequencing and its applications

GA Logsdon, MR Vollger, EE Eichler - Nature Reviews Genetics, 2020 - nature.com
Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

The polygenic architecture of schizophrenia—rethinking pathogenesis and nosology

OB Smeland, O Frei, AM Dale… - Nature Reviews …, 2020 - nature.com
Schizophrenia is a severe psychiatric disorder with considerable morbidity and mortality.
Although the past two decades have seen limited improvement in the treatment of …

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - BioRxiv, 2022 - biorxiv.org
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

A genomic mutational constraint map using variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - Nature, 2024 - nature.com
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

MJ Gandal, JR Haney, NN Parikshak, V Leppa… - Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart …

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

CR Marshall, DP Howrigan, D Merico… - Nature …, 2017 - nature.com
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …

How effective are cognitive behavior therapies for major depression and anxiety disorders? A meta‐analytic update of the evidence

P Cuijpers, IA Cristea, E Karyotaki… - World …, 2016 - Wiley Online Library
We report the current best estimate of the effects of cognitive behavior therapy (CBT) in the
treatment of major depression (MDD), generalized anxiety disorder (GAD), panic disorder …

Psychiatric genetics and the structure of psychopathology

JW Smoller, OA Andreassen, HJ Edenberg… - Molecular …, 2019 - nature.com
For over a century, psychiatric disorders have been defined by expert opinion and clinical
observation. The modern DSM has relied on a consensus of experts to define categorical …

Autism genetics: opportunities and challenges for clinical translation

JAS Vorstman, JR Parr, D Moreno-De-Luca… - Nature Reviews …, 2017 - nature.com
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

The genetic basis of major depression

KM Kendall, E Van Assche, TFM Andlauer… - Psychological …, 2021 - cambridge.org
Major depressive disorder (MDD) is a common, debilitating, phenotypically heterogeneous
disorder with heritability ranges from 30% to 50%. Compared to other psychiatric disorders …