Archive for the ‘SciLit’ Category

BMC Genomics | Full text | PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

Thursday, June 25th, 2015

PacBio-LITS: a…targeted sequencing method for characterization of…disease-associated SVs
http://www.biomedcentral.com/1471-2164/16/214 Capture reagent+@PacBio

Sequencing and analysis of genomic fragments from the NF1 locus. – PubMed – NCBI

Thursday, June 25th, 2015

publication containing both F Collins & JC Venter!

http://www.ncbi.nlm.nih.gov/pubmed/?term=1338369

Genome evolution during progression to breast cancer

Thursday, June 25th, 2015

http://genome.cshlp.org/content/23/7/1097.long

Daniel E. Newburger1,6,
Dorna Kashef-Haghighi2,6,
Ziming Weng3,6,
Raheleh Salari2,
Robert T. Sweeney3,
Alayne L. Brunner3,
Shirley X. Zhu3,
Xiangqian Guo3,
Sushama Varma3,
Megan L. Troxell4,
Robert B. West3,7,
Serafim Batzoglou2,7 and
Arend Sidow3,5,7

Published in Advance April 8, 2013, doi:10.1101/gr.151670.112 Genome Res. 2013. 23:1097-1108

Genome Biology | Abstract | Fast and scalable inference of multi-sample cancer lineages

Thursday, June 25th, 2015

http://www.genomebiology.com/2015/16/1/91/abstract

A subway map of cancer pathways

Sunday, June 21st, 2015

A subway map of #cancer #pathways
http://www.nature.com/nrc/poster/subpathways The cell cycle appears to be midtown. #DataViz via metaphor.

Visualizing virus assembly intermediates inside marine cyanobacteria : Nature : Nature Publishing Group

Tuesday, June 16th, 2015

Visualizing virus assembly…inside…bacteria
http://www.nature.com/nature/journal/v502/n7473/full/nature12604.html Phase-contrast #cryoET resolves subcellular structures (eg ribosomes)

Cryo-ET determines diff structural snapshots virus during assembly. One tomogram to work out whole pathway.

Wei Dai,
Caroline Fu,
Desislava Raytcheva,
John Flanagan,
Htet A. Khant,
Xiangan Liu,
Ryan H. Rochat,
Cameron Haase-Pettingell,
Jacqueline Piret,
Steve J. Ludtke,
Kuniaki Nagayama,
Michael F. Schmid,
Jonathan A. King
& Wah Chiu

Nature 502, 707–710 (31 October 2013) doi:10.1038/nature12604

Did natural selection make the Dutch the tallest people on the planet?

Tuesday, June 16th, 2015

Did natural #selection make the Dutch the tallest people on the
planet? http://news.sciencemag.org/biology/2015/04/did-natural-selection-make-dutch-tallest-people-planet Height spurt in last century not all nurture

QT:{{”
“This study drives home the message that the human population is still subject to natural selection,” says Stephen Stearns, an evolutionary biologist at Yale University who wasn’t involved in the study. “It strikes at the core of our understanding of human nature, and how malleable it is.” It also confirms what Stearns knows from personal experience about the population in the northern Netherlands, where the study took place: “Boy, they are tall.”

“For many years, the U.S. population was the tallest in the world. In the 18th century, American men were 5 to 8 centimeters taller than those in the Netherlands. Today, Americans are the fattest, but they lost the race for height to northern Europeans—including Danes, Norwegians, Swedes, and Estonians—sometime in the 20th century.

Just how these peoples became so tall isn’t clear, however. Genetics has an important effect on body height: Scientists have found at least 180 genes that influence how tall you become. Each one has only a small effect, but together, they may explain up to 80% of the variation in height within a population. Yet environmental factors play a huge role as well. The children of Japanese immigrants to Hawaii, for instance, grew much taller than their parents. Scientists assume that a diet rich in milk and meat played a major role.

The Dutch have become so much taller in such a short period that scientists chalk most of it up to their changing environment. As the Netherlands developed, it became one of the world’s largest producers and consumers of cheese and milk. An increasingly egalitarian distribution of wealth and universal access to health care may also have helped.”
“}}

High-throughput DNA sequence data compression

Friday, June 12th, 2015

http://bib.oxfordjournals.org/content/16/1/1.abstract

The structure, function and evolution of proteins that bind DNA and RNA : Nature Reviews Molecular Cell Biology : Nature Publishing Group

Wednesday, June 10th, 2015

http://www.nature.com/nrm/journal/v15/n11/full/nrm3884.html

NATURE REVIEWS MOLECULAR CELL BIOLOGY | ANALYSIS
William H. Hudson
& Eric A. Ortlund
Nature Reviews Molecular Cell Biology 15, 749–760 (2014) doi:10.1038/nrm3884

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Wednesday, June 10th, 2015

Func. Impact of Rare…Variation from Deep Sequencing…Exomes http://www.sciencemag.org/content/337/6090/64.abstract Relation to Protein Structural features (eg a-helices)

Science 6 July 2012:
Vol. 337 no. 6090 pp. 64-69
DOI: 10.1126/science.1219240

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen1,*,
Abigail W. Bigham2,*,†,
Timothy D. O’Connor1,*,
Wenqing Fu1,
Eimear E. Kenny3,
Simon Gravel3,
Sean McGee1,
Ron Do4,5,
Xiaoming Liu6,
Goo Jun7,
Hyun Min Kang7,
Daniel Jordan8,
Suzanne M. Leal9,
Stacey Gabriel4,
Mark J. Rieder1,
Goncalo Abecasis7,
David Altshuler4,
Deborah A. Nickerson1,
Eric Boerwinkle6,10,
Shamil Sunyaev4,8,
Carlos D. Bustamante3,
Michael J. Bamshad1,2,‡,
Joshua M. Akey1,‡,
Broad GO,
Seattle GO,
on behalf of the NHLBI Exome Sequencing Project