Personalized and graph genomes reveal missing signal in epigenomic data Cristian Groza, Tony Kwan, Nicole Soranzo, Tomi Pastinen & Guillaume Bourque Genome Biology volume 21, Article number: 124 (2020)
QT:{{ “Using permissive cutoffs, modified reference genomes are found to alter approximately 1% of peak calls while de novo assembled genomes alter up to 5% of peaks.” }}
https://www.nature.com/articles/s41586-020-2371-0
think allele frequencies are publicly available
newly published tool
TADsplimer reveals splits and mergers of topologically associating domains for epigenetic regulation of transcription
Guangyu Wang, Qingshu Meng, Bo Xia, Shuo Zhang, Jie Lv, Dongyu Zhao, Yanqiang Li, Xin Wang, Lili Zhang, John P. Cooke, Qi Cao & Kaifu Chen
https://genomebiology.biomedcentral.com/articles/10.1186/s13059-020-01992-7
https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-020-6516-1
The effects of common structural variants on 3D chromatin structure
Omar Shanta, Amina Noor, Human Genome Structural Variation Consortium (HGSVC) & Jonathan Sebat
BMC Genomics volume 21, Article number: 95 (2020)
https://www.nature.com/articles/s41586-020-1961-1
Tobacco smoking and somatic mutations in human bronchial epithelium
Kenichi Yoshida, Kate H. C. Gowers, Henry Lee-Six, Deepak P. Chandrasekharan, Tim Coorens, Elizabeth F. Maughan, Kathryn Beal, Andrew Menzies, Fraser R. Millar, Elizabeth Anderson, Sarah E. Clarke, Adam Pennycuick, Ricky M. Thakrar, Colin R. Butler, Nobuyuki Kakiuchi, Tomonori Hirano, Robert E. Hynds, Michael R. Stratton, Iñigo Martincorena, Sam M. Janes & Peter J. Campbell
Published: 10 December 2013
DNA methylation age of human tissues and cell types
Steve Horvath
Genome Biology volume 14, Article number: 3156 (2013)
https://genomebiology.biomedcentral.com/articles/10.1186/gb-2013-14-10-r115
A global overview of pleiotropy and genetic architecture in complex traits
Kyoko Watanabe, Sven Stringer, Oleksandr Frei, Maša Umićević Mirkov, Christiaan de Leeuw, Tinca J. C. Polderman, Sophie van der Sluis, Ole A. Andreassen, Benjamin M. Neale & Danielle Posthuma
