Candidate biomarkers in psychiatric disorders: state of the field
The field of psychiatry is hampered by a lack of robust, reliable and valid biomarkers that can
aid in objectively diagnosing patients and providing individualized treatment …
aid in objectively diagnosing patients and providing individualized treatment …
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
Autism genes converge on asynchronous development of shared neuron classes
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
Polygenic architecture of rare coding variation across 394,783 exomes
Typical genoty** workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …
variants. Generating such alignments introduces reference biases and comes with …
New and emerging approaches to treat psychiatric disorders
Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact
the lives of millions of people worldwide. Although their etiological and diagnostic …
the lives of millions of people worldwide. Although their etiological and diagnostic …
The landscape of tolerated genetic variation in humans and primates
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
Graph-based genome alignment and genoty** with HISAT2 and HISAT-genotype
The human reference genome represents only a small number of individuals, which limits its
usefulness for genoty**. We present a method named HISAT2 (hierarchical indexing for …
usefulness for genoty**. We present a method named HISAT2 (hierarchical indexing for …