Archive for the 'SciLit' Category

Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication: The American Journal of Human Genetics

July 21, 2015

http://www.cell.com/ajhg/abstract/S0002-9297(14)00055-X

Lessons from modENCODE

July 11, 2015

http://www.annualreviews.org/doi/abs/10.1146/annurev-genom-090413-025448

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