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Shaun Purcell

Researcher at Brigham and Women's Hospital

Publications -  347
Citations -  151651

Shaun Purcell is an academic researcher from Brigham and Women's Hospital. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 120, co-authored 326 publications receiving 132973 citations. Previous affiliations of Shaun Purcell include Icahn School of Medicine at Mount Sinai & University of Saint Mary.

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Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions

TL;DR: A statistical method that takes a list of disease regions and automatically assesses the degree of relatedness of implicated genes using 250,000 PubMed abstracts, and offers a statistically robust approach to identifying functionally related genes from across multiple disease regions—that likely represent key disease pathways.
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Genomewide association studies: history, rationale, and prospects for psychiatric disorders.

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TL;DR: GWAS methods have detected a remarkable number of robust genetic associations for dozens of common diseases and traits, leading to new pathophysiological hypotheses, although only small proportions of genetic variance have been explained thus far and therapeutic applications will require substantial further effort.
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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

TL;DR: It was found that gene-disruptive and putatively protein-damaging URVs (but not synonymous URVs) were more abundant among individuals with schizophrenia than among controls, suggesting that synaptic dysfunction may mediate a large fraction of strong, individually rare genetic influences on schizophrenia risk.