NISC Comparative Sequencing Program
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View article: Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data Open
Background: The National Birth Defects Prevention Study (NBDPS) is a multisite, population-based, case–control study of genetic and nongenetic risk factors for major structural birth defects. Eligible women had a pregnancy affected by a bi…
View article: Exome sequencing identifies variants in infants with sacral agenesis
Exome sequencing identifies variants in infants with sacral agenesis Open
Background: Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one h…
View article: Exome sequencing identifies genetic variants in anophthalmia and microphthalmia
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia Open
Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinic…
View article: Pyruvate dehydrogenase complex integrates the metabolome and epigenome in CD8+ memory T cell differentiation in vitro
Pyruvate dehydrogenase complex integrates the metabolome and epigenome in CD8+ memory T cell differentiation in vitro Open
Modulation of metabolic flux through pyruvate dehydrogenase complex (PDC) plays an important role in T cell activation and differentiation. PDC sits at the transition between glycolysis and the tricarboxylic acid cycle and is a major produ…
View article: Pyruvate dehydrogenase complex integrates the metabolome and epigenome in memory T cell differentiation in vitro
Pyruvate dehydrogenase complex integrates the metabolome and epigenome in memory T cell differentiation in vitro Open
Background Modulation of metabolic flux through pyruvate dehydrogenase complex (PDC) plays an important role in T cell activation and differentiation. PDC sits at the transition between glycolysis and the tricarboxylic acid cycle and is a …
View article: Genetic effects on liver chromatin accessibility identify disease regulatory variants
Genetic effects on liver chromatin accessibility identify disease regulatory variants Open
Identifying the molecular mechanisms by which genome-wide association study (GWAS) loci influence traits remains challenging. Chromatin accessibility quantitative trait loci (caQTLs) help identify GWAS loci that may alter GWAS traits by mo…
View article: A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the <i>OCA2</i> locus
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the <i>OCA2</i> locus Open
Oculocutaneous albinism (OCA) is a heritable disorder of pigment production that manifests as hypopigmentation and altered eye development. Exon sequencing of known OCA genes is unsuccessful in producing a complete molecular diagnosis for …
View article: Resolving the Complexity of Human Skin Metagenomes Using Single-Molecule Sequencing
Resolving the Complexity of Human Skin Metagenomes Using Single-Molecule Sequencing Open
Deep metagenomic shotgun sequencing has emerged as a powerful tool to interrogate composition and function of complex microbial communities. Computational approaches to assemble genome fragments have been demonstrated to be an effective to…