Archive for the 'SciLit' Category

The New Statistics

July 11, 2015

QT:{{”
“Exploration has a second meaning: Running pilot tests to explore ideas, refine procedures and tasks, and guide where precious research effort is best directed is often one of the most rewarding stages of research. No matter how intriguing, however, the results of such pilot work rarely deserve even a brief mention in a report. The aim of such work is to discover how to prespecify in detail a study that is likely to find answers to our research questions, and that must be reported. Any researcher needs to choose the moment to switch from
not-for-reporting pilot testing to prespecified, must-be-reported research.”
“}}

http://pss.sagepub.com/content/early/2013/11/07/0956797613504966.long

The fine-scale genetic structure of the British population : Nature : Nature Publishing Group

July 11, 2015

The fine-scale genetic structure of the British population
http://www.nature.com/nature/journal/v519/n7543/full/nature14230.html Correlation w. geography, reflecting Anglo-Saxon migration

http://www.nature.com/nature/journal/v519/n7543/full/nature14230.html

Cost of Reproducibility

July 6, 2015

Cost of #Reproducibility http://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.1002165 Estimated at almost $30B for life science research, based on 50% of studies not replicating

Comprehensive transcriptome analysis using synthetic long-read sequencing reveals molecular co-association of distant splicing events : Nature Biotechnology : Nature Publishing Group

June 25, 2015

#Transcriptome analysis [focusing on brain tissue]
using…long-read[s]…reveals…co-association of
distant…exonshttp://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.3242.html

Mostly protein coding genes

Defining a personal, allele-specific, and single-molecule long-read transcriptome

June 25, 2015

http://www.pnas.org/content/111/27/9869.full

Assembling large genomes with single-molecule sequencing and locality-sensitive hashing : Nature Biotechnology : Nature Publishing Group

June 25, 2015

http://www.nature.com/nbt/journal/v33/n6/abs/nbt.3238.html

Clan Genomics and the Complex Architecture of Human Disease: Cell

June 25, 2015

http://www.cell.com/cell/abstract/S0092-8674(11)01062-2?_returnURL=http%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0092867411010622%3Fshowall%3Dtrue

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

June 25, 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

June 25, 2015

publication containing both F Collins & JC Venter!

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

Genome evolution during progression to breast cancer

June 25, 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