Thomas A. Down
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View article: Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume Open
Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childh…
View article: Stable Caenorhabditis elegans chromatin domains separate broadly expressed and developmentally regulated genes.
Stable Caenorhabditis elegans chromatin domains separate broadly expressed and developmentally regulated genes. Open
Eukaryotic genomes are organized into domains of differing structure and activity. There is evidence that the domain organization of the genome regulates its activity, yet our understanding of domain properties and the factors that influen…
View article: Stable<i>C. elegans</i>chromatin domains separate broadly expressed and developmentally regulated genes
Stable<i>C. elegans</i>chromatin domains separate broadly expressed and developmentally regulated genes Open
Eukaryotic genomes are organized into domains of differing structure and activity. There is evidence that the domain organization of the genome regulates its activity, yet our understanding of domain properties and the factors that influen…
View article: LD relationship for <i>FTO</i> Association SNPs and rs7202116.
LD relationship for <i>FTO</i> Association SNPs and rs7202116. Open
Results given for D' and r2 in CEU HapMap population. *Indicates the methylation critical SNP within 900 bp window peak.
View article: WormBase 2016: expanding to enable helminth genomic research
WormBase 2016: expanding to enable helminth genomic research Open
WormBase (www.wormbase.org) is a central repository for research data on the biology, genetics and genomics of Caenorhabditis elegans and other nematodes. The project has evolved from its original remit to collect and integrate all data fo…
View article: Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel Open
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has gener…
View article: An interactive genome browser of association results from the UK10K cohorts project
An interactive genome browser of association results from the UK10K cohorts project Open
Summary: High-throughput sequencing technologies survey genetic variation at genome scale and are increasingly used to study the contribution of rare and low-frequency genetic variants to human traits. As part of the Cohorts arm of the UK1…
View article: The UK10K project identifies rare variants in health and disease
The UK10K project identifies rare variants in health and disease Open
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from popu…