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Karola Rehnström

Researcher at University of Cambridge

Publications -  48
Citations -  11875

Karola Rehnström is an academic researcher from University of Cambridge. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 28, co-authored 48 publications receiving 10069 citations. Previous affiliations of Karola Rehnström include National Institutes of Health & Wellcome Trust Sanger Institute.

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Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, +99 more
- 13 Nov 2014 - 
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

S. Hong Lee, +405 more
- 01 Sep 2013 - 
TL;DR: Empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
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A framework for the interpretation of de novo mutation in human disease

Kaitlin E. Samocha, +30 more
- 01 Sep 2014 - 
TL;DR: This model is used to identify ∼1,000 genes that are significantly lacking in functional coding variation in non-ASD samples and are enriched for de novo loss-of-function mutations identified in ASD cases, suggesting that the role of de noVO mutations in ASDs might reside in fundamental neurodevelopmental processes.
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Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters

Biola M. Javierre, +27 more
- 17 Nov 2016 - 
TL;DR: This work uses promoter capture Hi-C to identify interacting regions of 31,253 promoters in 17 human primary hematopoietic cell types and shows that promoter interactions are highly cell type specific and enriched for links between active promoters and epigenetically marked enhancers.

The UK10K project identifies rare variants in health and disease

Klaudia Walter, +241 more
TL;DR: The contribution of rare and low-frequency variants to human traits is largely unexplored as mentioned in this paper, but the contribution of these variants to the human traits has not yet been fully explored.