1st whole-genome long read haplotyping Moleculo http://t.co/X2bh4nA7gB @NatureBiotech @SUMedicine @illumina #genomics pic.twitter.com/vWkVefH2pj
— Eric Topol (@EricTopol) February 23, 2014
From organ replacement medicine to genomic precision medicine. Documenting all the way from Organ Donation to Gene Editing: The "Creative Destruction of Medicine". Organ replacement technologies. 3D Bioprinting. Fablabs. DIY Bio. New-Gen Genome Sequencing. Gene Therapy (transplanting genes into cells, rewriting patients' DNA). MOOCs. mHealth. In Memoriam Pr. Emmanuel Andronikof, Mathematician, Steve Jobs: "Think different," and Aaron Swartz: "Access to information is a human right."
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"Whole-genome haplotyping using long reads and statistical methods."
"The rapid growth of sequencing technologies has greatly contributed to
our understanding of human genetics. Yet, despite this growth,
mainstream technologies have not been fully able to resolve the diploid
nature of the human genome. Here we describe statistically aided,
long-read haplotyping (SLRH), a rapid, accurate method that uses a
statistical algorithm to take advantage of the partially phased
information contained in long genomic fragments analyzed by short-read
sequencing. For a human sample, as little as 30 Gbp of additional
sequencing data are needed to phase genotypes identified by 50× coverage
whole-genome sequencing. Using SLRH, we phase 99% of single-nucleotide
variants in three human genomes into long haplotype blocks 0.2–1 Mbp in
length. We apply our method to determine allele-specific methylation
patterns in a human genome and identify hundreds of differentially
methylated regions that were previously unknown. SLRH should facilitate
population-scale haplotyping of human genomes."
Source: http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.2833.html
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