qc3C – reference-free quality assessment for Hi-C sequencing data. Matthew DeMaere, Aaron DarlingHi-C is a sample preparation method that enables h... #DNA sequencing #Hi-C #reference-free. Benchmarking
Session Talk powerSFS: quantifying the intolerance of genes to mutation with a statistical model of the site frequency spectrum Loic Thibaut, Eleni GiannoulatouScores of genic intolerance such as RVIS, GeVIR an... #genomics #sequence variation #statistics
clonal tracking as quality control for mutational signature analysis Christoffer Flensburg, Ian MajewskiHigh throughput sequencing of cancer samples is an... #DNA sequencing #cancer #disease #sequence variation #benchmarking
Session Talk VIRUSBreakend: Viral Integration Recognition Using Single Breakends Daniel Cameron, Anthony PapenfussAn important cause of disease is the integration o... #structural variants #DNA sequencing #viruses
Understanding Polygenic Disease with BitEpi and EpiExplorer Arash Bayat, Brendan Hosking, Yatish Jain, Cameron Hosking, Milindi Kodikara, Daniel Reti, Natalie Twine, Denis BauerPolygenic diseases are driven by a large number of... #genomics #biomedical informatics #disease #sequence variation
Recurrent miscalling of missense variation from short-read genome sequence data Matt Field, Dan AndrewsShort-read resequencing of genomes produces abunda... #biomedical informatics #DNA sequencing #disease
Population dynamics of rDNA copy number in yeast and humans Diksha Sharma, Sylvie Hermann Le Denmat, Nicholas Matzke, Lauri Saag, Katherine Hannan, Ross Hannan, Herwati Sudoyo, Murray Cox, Justin Sullivan, Austen GanleyIn most eukaryotes the ribosomal RNA genes (rDNA) ... #sequence variation #phylodynamics #rDNA
Nimpress brings polygenic scores to the sequencing era Mark Pinese, Emilie Wilkie, Mark CowleyPolygenic scores enable the quantitative predictio... #genomics #sequence variation #statistics
DNA methylation differences in human placenta from female and male bearing pregnancies Qianhui Wan, Melanie Smith, Konstantinos Bogias, Tanja Jankovic-Karasoulos, Dale McAninch, Dylan McCullough, Shalem Leemaqz, Jimmy Breen, Claire RobertsSex differences in fetal growth and development ar... #DNA methylation #genomics #gene regulation #sex differences #pregnancy
Session Talk CRISPR, faster, better - The Crackling method for whole-genome target detection Jacob Bradford, Timothy Chappell, Brendan Hosking, Laurence Wilson, Dimitri PerrinCRISPR-Cas9 systems have become a leading tool for... #genomics #genome editing #CRISPR
Invited Keynote Binning Metagenomic Sequences Yu LinMetagenomics studies have provided key insights in... #metagenomics #genome assembly #graph algorithms
Alu Repeat Diversity in the Human Genome Renzo Balboa, Simon Easteal, Hardip PatelMore than half of the human genome is comprised of... #structural variants #evolution #genomics #transposable elements
Session Talk A comprehensive benchmarking of WGS-based structural variant callers Varuni Sarwal, Sebastian Niehus, Ram Ayyala, Eleazar Eskin, Jonathan Flint, Serghei MangulStructural variants (SVs) are genomic regions that... #structural variants #DNA sequencing #benchmarking
