Structural variation in the 3D genome
Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
Heart rate variability as a transdiagnostic biomarker of psychopathology
TP Beauchaine, JF Thayer - International journal of psychophysiology, 2015 - Elsevier
Abstract The Research Domain Criteria (RDoC), developed by the National Institute of
Mental Health as a neuroscience-informed alternative to traditional psychiatric nosology, is …
Mental Health as a neuroscience-informed alternative to traditional psychiatric nosology, is …
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes
Typical genotyping 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 …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
been widely used to investigate protein-coding genes underlying human disorders, but …
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
Mapping and characterization of structural variation in 17,795 human genomes
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …
[PDF][PDF] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
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 …
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …
Gene expression elucidates functional impact of polygenic risk for schizophrenia
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
Hippocampal dysfunction in the pathophysiology of schizophrenia: a selective review and hypothesis for early detection and intervention
Scientists have long sought to characterize the pathophysiologic basis of schizophrenia and
develop biomarkers that could identify the illness. Extensive postmortem and in vivo …
develop biomarkers that could identify the illness. Extensive postmortem and in vivo …