Posts Tagged ‘i0seqnet’

Golden Rule – Wikipedia, the free encyclopedia

Tuesday, October 15th, 2013

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


The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line Nature. 2013 – PubMed – NCBI

Saturday, October 12th, 2013

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 via @aemonten

Cell – A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

Saturday, October 12th, 2013

Cell, Volume 155, Issue 1, 70-80, 26 September 2013
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

Variants in #Mendelian Loci Contribute to Complex Disease Risk: connecting rare & common diseases via @neilfws

Clan genomics and the complex architecture of human dis… Cell. 2011 – PubMed – NCBI

Friday, October 11th, 2013

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.”

Replicative mechanisms for CNV formation are error prone : Nature Genetics : Nature Publishing Group

Friday, October 11th, 2013 Replicative mechanisms for #CNV formation are error prone: CNVs associated with SNVs in 67 cases MT @LeucineRichBio
Lupski paper