Genomic frontiers in congenital heart disease
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
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 …
Focus on your locus with a massively parallel reporter assay
A growing number of variants associated with risk for neurodevelopmental disorders have
been identified by genome-wide association and whole genome sequencing studies. As …
been identified by genome-wide association and whole genome sequencing studies. As …
Mendelian gene discovery: fast and furious with no end in sight
Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding
genome function. Approaches based on next-generation sequencing applied at scale have …
genome function. Approaches based on next-generation sequencing applied at scale have …
Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes
Structural variants (SVs) are an important source of human genome diversity, but their
functional effects are poorly understood. We mapped 61,668 SVs in 613 individuals from the …
functional effects are poorly understood. We mapped 61,668 SVs in 613 individuals from the …
[HTML][HTML] Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex
Gene expression levels vary across developmental stage, cell type, and region in the brain.
Genomic variants also contribute to the variation in expression, and some neuropsychiatric …
Genomic variants also contribute to the variation in expression, and some neuropsychiatric …
Ranking of non-coding pathogenic variants and putative essential regions of the human genome
A gene is considered essential if loss of function results in loss of viability, fitness or in
disease. This concept is well established for coding genes; however, non-coding regions …
disease. This concept is well established for coding genes; however, non-coding regions …
Genomic diagnosis for pediatric disorders: revolution and evolution
Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders
(NDDs) often carry disruptive mutations in genes that are depleted of functional variation in …
(NDDs) often carry disruptive mutations in genes that are depleted of functional variation in …
[HTML][HTML] Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
The emergence of novel sequencing technologies has greatly improved the identification of
structural variation, revealing that a human genome harbors tens of thousands of structural …
structural variation, revealing that a human genome harbors tens of thousands of structural …