http://www.illumina.com/platinumgenomes/
A family trio (NA12877, NA12878, and NA12882) sequenced on a HiSeq 2000 system. An individual (NA18507) sequenced on a HiSeq 2500 system.
Posts Tagged ‘#genomics’
Illumina Platinum Genomes
February 10, 2013Retro CNVs
February 3, 2013transposable element common to both human and fruit fly
January 30, 2013The Human THAP9 Gene Encodes an Active P-Element DNA Transposase http://www.sciencemag.org/content/339/6118/446.abstract
The Tomato – Ripe, Juicy and Bursting With Genes – NYTimes.com
January 24, 2013An RNA map predicting Nova-dependent splicing regulation : Abstract : Nature
December 27, 2012bioinformatics + expt. reveal particular seq. motif (YCAY) important in splicing in brains
http://www.nature.com/nature/journal/v444/n7119/abs/nature05304.html
HITS-CLIP: panoramic views of protein-RNA regulation in living cells
December 22, 2012Nice overview of Clipseq/HITS-CLIP
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222227/
QT:”
This advantage relates to the mechanism of UV-mediated crosslinking, which, although incompletely understood, is believed to involve absorption of UV light by nucleic acid bases44 to induce ground state electrons to a singlet higher-energy state that enables the electron to partake in a chemical reaction in which a new covalent bond is formed…
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disease alleles in healthy genomes: paper and BBC article
December 21, 2012BBC article:
http://www.bbc.co.uk/news/science-environment-20617312
http://www.cell.com/AJHG/fulltext/S0002-9297%2812%2900538-1
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and
Population-Scale Resequencing
Yali Xue1, Yuan Chen1, Qasim Ayub1, Ni Huang1, Edward V. Ball2, Matthew Mort2, Andrew D. Phillips2, Katy Shaw2, Peter D. Stenson2, David N. Cooper2, Chris Tyler-Smith1, , and the 1000 Genomes Project Consortium
Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability
December 18, 2012http://genome.cshlp.org/content/early/2012/11/01/gr.141382.112
analysis of 95 tumor genomes
About bread wheat genome
December 17, 2012QT:”
Bread wheat (Triticum aestivum) is a globally important crop, accounting for 20 per cent of the calories consumed by humans….Here we report the sequencing of its large, 17-gigabase-pair, hexaploid genome using 454 pyrosequencing, and comparison of this with the sequences of diploid ancestral and progenitor genomes. We identified between 94,000 and 96,000 genes.
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http://www.nature.com/nature/journal/v491/n7426/full/nature11650.html?WT.ec_id=NATURE-20121129
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