Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

Nature Genetics · May 17, 2021Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

Population based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high grade serous ovarian cancer

Honglin Song, Ed Dicks, Jonathan P. Tyrer, Maria P. Intermaggio, Georgia Chenevix‐Trench, David D.L. Bowtell, Nadia Traficante, AOCS Group, James D. Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke Van Oudenhove, Jennifer A. Doherty, Holly Ruth Harris, , Paul D.P. Pharoah

Journal of Medical Genetics · Jun 16, 2020Peer-reviewedGenetic & Genomic Medicine

Use of FFPE-Derived DNA in Next Generation Sequencing: DNA extraction methods

Samantha J. McDonough, Aditya Vijay Bhagwate, Zhifu Sun, Chen Wang, Michael A. Zschunke, Joshua A. Gorman, Karla J. Kopp, Julie M. Cunningham

The paper evaluates nine FFPE DNA extraction methods for NGS, finding average WES coverage of ~20-30X and 99% genotype concordance with targeted panels.

PLoS ONE · Apr 11, 2019Peer-reviewedMolecular Biology

Shared heritability and functional enrichment across six solid cancers

Xia Jiang, Hilary K. Finucane, Fredrick R. Schumacher, Stephanie L. Schmit, Jonathan P. Tyrer, Younghun Han, Kyriaki Michailidou, Corina Lesseur, Karoline B. Kuchenbaecker, Joe Dennis, David V. Conti, Graham Casey, Mia M. Gaudet, Jeroen R. Huyghe, Demetrius Albanes, , Patricia A. Ganz

This study quantifies genetic correlations between six solid cancers and other diseases using GWAS data, finding shared heritability and functional enrichment in regulatory regions.

Nature Communications · Jan 25, 2019Peer-reviewedGenomics