Archive for the 'SciLit' Category

Alignment-free sequence comparison: benefits, applications, and tools

November 12, 2017

Might be useful for noncoding comparisons

Alignment-free seq. comparison: benefits, apps & tools
https://GenomeBiology.biomedcentral.com/articles/10.1186/s13059-017-1319-7 Great tidbits, viz: Shannon asked von Neumann what to call his info measure – “Why don’t you call it entropy…no one understands entropy…so in any discussion, you’ll be in a position of advantage.”

QT:{{”
“Reportedly, Claude Shannon, who was a mathematician working at Bell Labs, asked John von Neumann what he should call his newly developed measure of information content; “Why don’t you call it entropy,” said von Neumann, “[…] no one understands entropy very well so in any discussion you will be in a position of advantage […]” []. The concept of Shannon entropy came from the observation that some English words, such as “the” or “a”, are very frequent and thus unsurprising” ….
“The calculation of a distance between sequences using complexity (compression) is relatively straightforward (Fig. ). This procedure takes the sequences being compared (x = ATGTGTG and y = CATGTG) and concatenates them to create one longer sequence (xy = ATGTGTGCATGTG). If x and y are exactly the same, then the complexity (compressed length) of xy will be very close to the complexity of the individual x or y. However, if x and y are dissimilar, then the complexity of xy (length of compressed xy) will tend to the cumulative complexities of x and y.”

“Intriguingly, BLOSUM matrices, which are the most commonly used substitution matrix series for protein sequence alignments, were found to have been miscalculated years ago and yet produced significantly better alignments than their corrected modern version (RBLOSUM) []; this paradox remains a mystery.”
“}}

DMDM: domain mapping of disease mutations | Bioinformatics | Oxford Academic

November 5, 2017

https://academic.oup.com/bioinformatics/article/26/19/2458/229387

Fast search of thousands of short-read sequencing experiments : Nature Biotechnology : Nature Research

November 5, 2017

https://www.nature.com/nbt/journal/v34/n3/full/nbt.3442.html

SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data: The American Journal of Human Genetics

November 5, 2017

http://www.cell.com/ajhg/fulltext/S0002-9297(17)30235-5

Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin. – PubMed – NCBI

November 5, 2017

https://www.ncbi.nlm.nih.gov/pubmed/26771485

http://www.cell.com/cell/fulltext/S0092-8674(15)01569-X

CHiCAGO: robust detection of DNA looping interactions in Capture Hi-C data | Genome Biology | Full Text

November 5, 2017

https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0992-2

Obesity-associated variants within FTO form long-range functional connections with IRX3

November 5, 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113484/

Comparative analysis of three-dimensional chromosomal architecture identifies a novel fetal hemoglobin regulatory element. – PubMed – NCBI

October 30, 2017

Comparative…3D chromosomal architecture identifies a novel fetal Hb reg. element http://GenesDev.cshlp.org/content/31/16/1704.abstract #Pseudogene shifts v. promotor

Visualizing the molecular sociology at the HeLa cell nuclear periphery | Science

October 26, 2017

http://science.sciencemag.org/content/351/6276/969.long

#Visualizing the molecular sociology [of complexes] at the HeLa cell nuclear periphery, w/ #CryoET at 10 Ang. res. http://science.ScienceMag.org/content/351/6276/969.long

Science. 2016 Feb 26;351(6276):969-72. doi: 10.1126/science.aad8857.
Visualizing the molecular sociology at the HeLa cell nuclear periphery.
Mahamid J1, Pfeffer S2, Schaffer M2, Villa E3, Danev R2, Cuellar LK2, Förster F2, Hyman AA4, Plitzko JM2, Baumeister W1.

GTEx paper

October 22, 2017

Paper about what will be on eGTEx project:
https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3969.html

Gtex Nature
https://www.nature.com/nature/journal/v550/n7675/full/nature24267.html https://www.nature.com/nature/journal/v550/n7675/full/nature24265.html https://www.nature.com/nature/journal/v550/n7675/full/nature24041.html http://www.nature.com/nature/journal/v550/n7675/full/nature24277.html