uses PCSK9, a human KO – a pgene motivation
One-and-Done Heart Disease Prevention? Scientists Show It May Be Possible. – The New York Times
https://www.nytimes.com/2026/05/25/health/cholesterol-ldl-gene-therapy.html
Posts Tagged ‘aloft’
One-and-Done Heart Disease Prevention? Scientists Show It May Be Possible.
June 7, 2026Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
February 24, 2018Genic Intolerance to Functional Variation & the Interpretation of Personal Genomes
http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003709 Nice plot of the number of rare v common variants in each gene to find outliers particularly tolerant to impactful (eg #LOF) mutations
http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003709
Petrovski et al ’13
Patterns and functional implications of rare germline variants across 12 cancer types : Nature Communications : Nature Publishing Group
May 8, 2017Patterns…of rare germline variants across 12 cancers http://www.Nature.com/ncomms/2015/151209/ncomms10086/full/ncomms10086.html TCGA v NHLBI exomes finds enriched LOFs + some gene burdening[category scilit]
Scientists discover we don’t need all of out 20,000 genes to survive
October 10, 2015QT:{{”
“We have around 24,000 genes that make us uniquely human and, until now, it was thought that if any were missing it could cause serious problems.
But new research has found that around 200 of these genes may in fact be completely redundant, without posing any such risk.
By studying the genomes of 2,500 people, researchers have said they were surprised to see around one per cent of these genes were missing entirely in some participants.
More importantly, these particular people had no significant health defects that would be explained by the missing genes.
“}}
Why Human Disease-Associated Residues Appear as the Wild-Type in Other Species: Genome-Scale Structural Evidence for the Compensation Hypothesis
September 14, 2015Why human disease-associated residues appear as WT in other species http://mbe.oxfordjournals.org/content/31/7/1787.abstract Compensation by their 3D structural neighbors
ALK Mutations Confer Differential Oncogenic Activation and Sensitivity to ALK Inhibition Therapy in Neuroblastoma: Cancer Cell
May 22, 2015ALK Mutations Confer Differential Oncogenic Activation
http://www.cell.com/cancer-cell/abstract/S1535-6108%2814%2900393-6 MD modeling better assessing #SNV impact than stats, ie sift
ALK Mutations Confer Differential Oncogenic Activation and Sensitivity to ALK Inhibition Therapy in Neuroblastoma
Scott C. Bresler
Daniel A. Weiser
Peter J. Huwe
…
Ravi Radhakrishnan
Mark A. Lemmon
Yaël P. Mossé
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations
April 26, 2015Some initial comparisons of HGMD & OMIM, nice to incl. ClinVar in the future
Cholesterol-Lowering PCSK9 Inhibitors Near Market Entry | March 30, 2015 Issue – Vol. 93 Issue 13 | Chemical & Engineering News
April 11, 2015#PCSK9 Inhibitors Near Market Entry
http://cen.acs.org/articles/93/i13/Cholesterol-Lowering-PCSK9-Inhibitors-Near.html Suggested by natural #LOF lowering LDL via promoting recycling of its receptor
Identification of a large set of rare complete human knockouts : Nature Genetics : Nature Publishing Group
April 3, 2015A large set [1171] of rare complete human knockouts
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3243.html ~8% Icelanders have one; from a larger set of ~5K genes w/ #LOFs
Also:
In Iceland’s DNA, New Clues to Disease-Causing Genes – NYTimes.com
http://www.nytimes.com/2015/03/26/science/in-icelands-dna-clues-to-what-genes-may-cause-disease.html
by Carl Zimmer
QT:{{”
The Decode researchers looked for human knockouts in Iceland — and found a lot of them. Nearly 8 percent of Icelanders lack a working version of a gene. All told, the Decode team identified 1,171 genes shut down in Icelandic knockouts.
In a 2012 study, Dr. MacArthur and his colleagues were able to identify just 253 genes knocked out in humans.
“}}
Genotype to phenotype relationships in autism spectrum disorders : Nature Neuroscience : Nature Publishing Group
February 26, 2015Genotype to phenotype relationships in ASD http://www.nature.com/neuro/journal/v18/n2/abs/nn.3907.html Expression differences in #brain development for LOF-containing, M v F, &c
Also, netbag finds subnets assoc w autism
linkstream2 microblog 