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Data Wrangling

The blogger at Biostumblematic discusses data management and wonders whether that is the key to more open science. After all, sharing data would be a lot easier if you could find it. The blogger suggests that academic labs take a page from industry and try using Laboratory Information Management Systems. However, many LIMS are pricey, so a further suggestion is to develop a simple, open-source system. "How great would it be if you wanted to do a meta-study from the published results of several labs, and all it took to have the data in a consistent format was a simple MySQL statement (or, if the software is coded properly, a couple of button clicks)?" the blogger asks.

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.