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The Tool-Builders

Sandra Porter draws the distinction between bioinformaticists or bioinformatics programmers and people who use the tools the others create. "The tool builders are the programmers, architects, computational biologists, and computer scientists who write new algorithms, create databases, and build software systems. The tool users are the biologists," she writes. Porter then points to a recent PLoS Computational Biology education piece in which Joel Dudley and Atul Butte give tips on honing bioinformatics programming skills. They write that "the most fundamental and versatile tools in your technology toolbox are programming languages" and they also point out the importance of knowing UNIX and parallel programming.

The Scan

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.