BMC Genomics | Abstract | Assessing structural variation in a personal genome—towards a human reference d iploid genome
Monday, May 4th, 2015consensus method
consensus method
QT:{{”
We introduce GASVPro, an algorithm combining both paired read and read depth signals into a probabilistic model that can analyze multiple alignments of reads.
“}}
QT:{{”
We present MultiBreak-SV, an algorithm to detect structural variants (SVs) from single molecule sequencing data, paired read sequencing data, or a combination of sequencing data from different platforms. “}}
uses pacbio
http://bioinformatics.oxfordjournals.org/content/30/24/3458.long
Microbial interaction betw humans & the indoor environment http://www.sciencemag.org/content/345/6200/1048.abstract
Unique personal signatures w/ implications for #forensics
Places change to conform to signature…..
The evolutionary history of…metastatic prostate #cancer http://www.nature.com/nature/journal/vaop/ncurrent/full/nature14347.html Unexpected: polyclonal "seeding" w/ much met-to-met spread
Reverse-engineering #censorship in #China: Randomized expts
http://www.sciencemag.org/content/345/6199/1251722.abstract Criticism is ok but calls for collective action are not
Transmissible Dog #Cancer #Genome Reveals…History of…Cell Lineage http://www.sciencemag.org/content/343/6169/437.abstract 1.9M somatic mutations from origin ~11K yrs ago
Can disparities be deadly? http://www.sciencemag.org/content/344/6186/829.summary
Correlation v causation: does high government rank lead to good health or the converse
For the famous Whitehall study
Some initial comparisons of HGMD & OMIM, nice to incl. ClinVar in the future