Pooled Sequencing of 531 Genes in Inflammatory Bowel Disease Identifies an Associated Rare Variant in BTNL2 and Implicates Other Immune Related Genes

@article{Prescott2015PooledSO,
  title={Pooled Sequencing of 531 Genes in Inflammatory Bowel Disease Identifies an Associated Rare Variant in BTNL2 and Implicates Other Immune Related Genes},
  author={Natalie J Prescott and Benjamin C Lehne and Kristina L. Stone and James C. Lee and Kirstin M Taylor and Jo Knight and E. Papouli and Muddassar M. Mirza and Michael A. Simpson and Sarah L. Spain and Grace H. C. Lu and Franca Fraternali and Suzannah J. Bumpstead and Emma V. Gray and Ariella Amar and Hannah Bye and Peter H.R. Green and Guy Chung‐Faye and Bu' Hussain Hayee and Richard C G Pollok and Jack Satsangi and Miles Parkes and Jeffrey C. Barrett and John C. Mansfield and Jeremy D. Sanderson and Cathryn M. Lewis and Michael E. Weale and Thomas Schlitt and Christopher G. Mathew},
  journal={PLoS Genetics},
  year={2015},
  volume={11}
}
The contribution of rare coding sequence variants to genetic susceptibility in complex disorders is an important but unresolved question. Most studies thus far have investigated a limited number of genes from regions which contain common disease associated variants. Here we investigate this in inflammatory bowel disease by sequencing the exons and proximal promoters of 531 genes selected from both genome-wide association studies and pathway analysis in pooled DNA panels from 474 cases of Crohn… 

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