linkstream2 microblog

“The Big Apple: Golden Rule (“He who has the gold makes the rules”)”.

from

https://en.wikipedia.org/wiki/Golden_Rule

http://www.ncbi.nlm.nih.gov/pubmed/23925245

Contains a personal-genome like construction for HeLa
with 100X shotgun and then paired ends used for variant discovery and sequencing of pools of fosmid clones for haplotype resolution. Finally, low-freq. somatic and passage variants layered onto this.

Haplotype-resolved genome… of #HeLa: Has mapping of #ENCODE RNA- & chIP-seq against a personal genome
http://dx.doi.org/10.1038/nature12213 via @aemonten

Cell, Volume 155, Issue 1, 70-80, 26 September 2013
10.1016/j.cell.2013.08.030
David R. Blair,Christopher S. Lyttle,Jonathan M. Mortensen,Charles F. Bearden,Anders Boeck Jensen,Hossein Khiabanian,Rachel Melamed,Raul Rabadan,Elmer V. Bernstam,Søren Brunak,Lars Juhl Jensen,Dan
Nicolae,Nigam H. Shah,Robert L. Grossman,Nancy J. Cox,Kevin P. White,Andrey Rzhetsky

http://www.cell.com/retrieve/pii/S0092867413010246

Variants in #Mendelian Loci Contribute to Complex Disease Risk: connecting rare & common diseases
http://www.cell.com/retrieve/pii/S0092867413010246 via @neilfws

QT:”One implication of this realization is that recent mutation may have a greater influence on disease susceptibility or protection than is conferred by variations that arose in distant ancestors.” http://www.ncbi.nlm.nih.gov/pubmed/21962505

http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2768.html Replicative mechanisms for #CNV formation are error prone: CNVs associated with SNVs in 67 cases http://dx.doi.org/10.1038/ng.2768 MT @LeucineRichBio
Lupski paper