https://ghr.nlm.nih.gov/primer/precisionmedicine/precisionvspersonalized
Posts Tagged ‘entex’
What is the difference between precision medicine and personalized medicine? What about pharmacogenomics? – Genetics Home Reference – NIH
August 15, 2020Personalized and graph genomes reveal missing signal in epigenomic data
June 14, 2020Personalized 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.” }}
Mapping and characterization of structural variation in 17,795 human genomes
May 28, 2020https://www.nature.com/articles/s41586-020-2371-0
think allele frequencies are publicly available
Detecting sample swaps in diverse NGS data types using linkage disequilibrium | bioRxiv
April 29, 2020Comparing tads across samples
April 6, 2020newly 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
Paper of interest
February 1, 2020https://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)
Tobacco smoking and somatic mutations in human bronchial epithelium
February 1, 2020https://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
DNA methylation age of human tissues and cell types | Genome Biology | Full Text
October 26, 2019Published: 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
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