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Ellen A. Tsai

Researcher at Biogen Idec

Publications -  38
Citations -  1274

Ellen A. Tsai is an academic researcher from Biogen Idec. The author has contributed to research in topics: Genome-wide association study & Exome sequencing. The author has an hindex of 13, co-authored 30 publications receiving 640 citations. Previous affiliations of Ellen A. Tsai include University of Pennsylvania & Children's Hospital of Philadelphia.

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Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.

Joseph D. Szustakowski, +34 more
- 28 Jun 2021 - 
TL;DR: The UK Biobank Exome Sequencing Consortium (UKB-ESC) as mentioned in this paper is a private-public partnership between the UK Biopartition and eight biopharmaceutical companies that will complete the sequencing of exomes for all ~500,000 UKB participants.
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green, +230 more
- 02 Jun 2016 - 
TL;DR: The CSER consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing.
Posted ContentDOI

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

Joseph D. Szustakowski, +34 more
- 04 Nov 2020 - 
TL;DR: Early results from the exome sequence data generated by the UKB-ESC for the first ~200,000 UKB subjects are described and the rationale for the use of human genetics in drug discovery as well as lessons learned are described.
Posted ContentDOI

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen, +212 more
- 18 Mar 2021 - 
TL;DR: All ALS associated signals combined reveal a role for perturbations in vesicle mediated transport and autophagy, and provide evidence for cell-autonomous disease initiation in glutamatergic neurons.
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Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Shuang Cui, +10 more
- 01 May 2013 - 
TL;DR: Based on genetic analysis of patients with BA and zebrafish, GPC1 appears to be a BA susceptibility gene, and these findings support a role for Hedgehog signaling in the pathogenesis of BA.