Next-generation sequencing (NGS) is now more accessible to clinicians and researchers.
As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

In order to provide a comprehensive resource for human structural variants (SVs), we generated
long-read sequence data and analyzed SVs for fifteen human genomes. We sequence …

We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay
and autism to identify 253 candidate neurodevelopmental disease genes with an excess …

Human genomes are typically assembled as consensus sequences that lack information on
parental haplotypes. Here we describe a reference-free workflow for diploid de novo …

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …

Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families, we …

Abstract» Dropped head syndrome is a group of disorders with diverse etiologies involving
different anatomical components of the neck, ultimately resulting in a debilitating, flexible …

Dysregulated oxidative metabolism is a well-recognized aspect of cancer biology, and many
therapeutic strategies are based on targeting cancers by altering cellular redox pathways. …

Studies of de novo mutation (DNM) have typically excluded some of the most repetitive and
complex regions of the genome because these regions cannot be unambiguously mapped …