User profiles for Ayellet V Segrè

Ayellet Segre

Assistant 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

GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè… - Science, 2015 - science.org
Understanding the functional consequences of genetic variation, and how it affects complex
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

…, AR Wood, T Ferreira, RJ Weyant, AV Segre… - Nature …, 2010 - nature.com
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 …

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

…, OM Hofmann, J Dupuis, L Qi, AV Segrè… - Nature …, 2010 - nature.com
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-…

Hundreds of variants clustered in genomic loci and biological pathways affect human height

…, T Ferreira, AR Wood, RJ Weyant, AV Segrè… - Nature, 2010 - nature.com
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…

The human transcriptome across tissues and individuals

…, DD Pervouchine, TJ Sullivan, R Johnson, AV Segrè… - Science, 2015 - science.org
Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

[HTML][HTML] The Lin28/let-7 axis regulates glucose metabolism

H Zhu, N Shyh-Chang, AV Segrè, G Shinoda, SP Shah… - Cell, 2011 - cell.com
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 …

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 …

[PDF][PDF] Colocalization of GWAS and eQTL signals detects target genes

F Hormozdiari, M Van De Bunt, AV Segre, X Li… - The American Journal of …, 2016 - cell.com
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 …

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

…, D Schlessinger, NJ Schork, A Scuteri, AV Segrè… - Nature …, 2010 - nature.com
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 …

Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

…, PA Branton, JL Marshall, A Greka, G Getz, AV Segrè… - Science, 2022 - science.org
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 …