Genetic variation and the de novo assembly of human genomes
The discovery of genetic variation and the assembly of genome sequences are both
inextricably linked to advances in DNA-sequencing technology. Short-read massively …
inextricably linked to advances in DNA-sequencing technology. Short-read massively …
Genome structural variation discovery and genoty**
Comparisons of human genomes show that more base pairs are altered as a result of
structural variation—including copy number variation—than as a result of point mutations …
structural variation—including copy number variation—than as a result of point mutations …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases
Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …
variants associated with disease phenotypes. However, most of these variants do not alter …
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
[HTML][HTML] Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
VA Schneider, T Graves-Lindsay, K Howe… - Genome …, 2017 - genome.cshlp.org
The human reference genome assembly plays a central role in nearly all aspects of today's
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …
High-resolution comparative analysis of great ape genomes
INTRODUCTION Understanding the genetic differences that make us human is a long-
standing endeavor that requires the comprehensive discovery and comparison of all forms …
standing endeavor that requires the comprehensive discovery and comparison of all forms …
A copy number variation morbidity map of developmental delay
To understand the genetic heterogeneity underlying developmental delay, we compared
copy number variants (CNVs) in 15,767 children with intellectual disability and various …
copy number variants (CNVs) in 15,767 children with intellectual disability and various …
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
The complex nature of human cognition has resulted in cognitive genomics lagging behind
many other fields in terms of gene discovery using genome-wide association study (GWAS) …
many other fields in terms of gene discovery using genome-wide association study (GWAS) …