User profiles for Ayellet V Segrè
Ayellet SegreAssistant Professor at Dept. of Ophthalmology, Harvard Medical School, Massachusetts Eye … Verified email at meei.harvard.edu Cited by 37596 |
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain
largely elusive. To identify genetic loci for obesity susceptibility, we examined associations …
largely elusive. To identify genetic loci for obesity susceptibility, we examined associations …
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D)
and 38,987 controls of European descent and following up previously unidentified meta-…
and 38,987 controls of European descent and following up previously unidentified meta-…
Hundreds of variants clustered in genomic loci and biological pathways affect human height
Most common human traits and diseases have a polygenic pattern of inheritance: DNA
sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA…
sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA…
The human transcriptome across tissues and individuals
Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …
[HTML][HTML] The Lin28/let-7 axis regulates glucose metabolism
The let-7 tumor suppressor microRNAs are known for their regulation of oncogenes, while
the RNA-binding proteins Lin28a/b promote malignancy by inhibiting let-7 biogenesis. We …
the RNA-binding proteins Lin28a/b promote malignancy by inhibiting let-7 biogenesis. We …
A novel approach to high-quality postmortem tissue procurement: the GTEx project
…, NV Roche, SJ Sawyer, AV Segrè… - Biopreservation and …, 2015 - liebertpub.com
The Genotype-Tissue Expression (GTEx) project, sponsored by the NIH Common Fund,
was established to study the correlation between human genetic variation and tissue-specific …
was established to study the correlation between human genetic variation and tissue-specific …
[PDF][PDF] Colocalization of GWAS and eQTL signals detects target genes
The vast majority of genome-wide association study (GWAS) risk loci fall in non-coding regions
of the genome. One possible hypothesis is that these GWAS risk loci alter the individual's …
of the genome. One possible hypothesis is that these GWAS risk loci alter the individual's …
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide
association studies in 87,802 women of European descent, with replication in up to 14,731 …
association studies in 87,802 women of European descent, with replication in up to 14,731 …
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function
Understanding gene function and regulation in homeostasis and disease requires knowledge
of the cellular and tissue contexts in which genes are expressed. Here, we applied four …
of the cellular and tissue contexts in which genes are expressed. Here, we applied four …