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Last Week's Sequencing-Related Papers of Note: Feb 18, 2014


Supercomputing for the parallelization of whole genome analysis.
Puckelwartz M, Pesce L, Nelakuditi V, Dellefave-Castillo L, et al.
Bioinformatics. 2014 Feb 12. [Epub ahead of print]

BIMA V3: an aligner customized for mate pair library sequencing.
Drucker TM, Johnson SH, Murphy SJ, Cradic KW, et al.
Bioinformatics. 2014 Feb 12. [Epub ahead of print]

A novel low energy electron microscope for DNA sequencing and surface analysis.
Mankos M, Shadman K, Persson HH, N'diaye AT, et al.
Ultramicroscopy. 2014 Jan 31. [Epub ahead of print]

The genome of a Late Pleistocene human from a Clovis burial site in western Montana.
Rasmussen M, Anzick SL, Waters MR, Skoglund P, et al.
Nature. 2014 Feb 13;506(7487):225-9.

Assessment of RainDrop BS-seq as a method for large-scale, targeted bisulfite sequencing.
Paul DS, Guilhamon P, Karpathakis A, Butcher LM, et al.
Epigenetics. 2014 Feb 11;9(5).

BayMeth: improved DNA methylation quantification for affinity capture sequencing data using a flexible Bayesian approach.
Riebler A, Menigatti M, Song JZ, Statham AL, et al.
Genome Biol. 2014 Feb 11;15(2):R35.

The predictability of molecular evolution during functional innovation.
Blank D, Wolf L, Ackermann M, Silander OK.
Proc Natl Acad Sci U S A. 2014 Feb 10. [Epub ahead of print]

A multi-split mapping algorithm for circular RNA, splicing, trans-splicing, and fusion detection.
Hoffmann S, Otto C, Doose G, Tanzer A, et al.
Genome Biol. 2014 Feb 10;15(2):R34.

COV2HTML: a visualization and analysis tool of bacterial next generation sequencing (NGS) data for postgenomics life scientists.
Monot M, Orgeur M, Camiade E, Brehier C, Dupuy B.
OMICS. 2014 Feb 10. [Epub ahead of print]

The Scan

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.

Lupus Heterogeneity Highlighted With Single-Cell Transcriptomes

Using single-cell RNA sequencing, researchers in Nature Communications tracked down immune and non-immune cell differences between discoid lupus erythematosus and systemic lupus erythematosus.

Rare Disease Clues Gleaned From Mobile Element Insertions in Exome Sequences

With an approach called MELT, researchers in the European Journal of Human Genetics uncovered mobile element insertions in exomes from 3,232 individuals with or without developmental or neurological abnormalities.

Team Tracks Down Potential Blood Plasma Markers Linked to Heart Failure in Atrial Fibrillation Patients

Researchers in BMC Genomics found 10 differentially expressed proteins or metabolites that marked atrial fibrillation with heart failure cases.