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Maq Still Leading the Way

Dan Koboldt of the MassGenomics blog will be presenting a poster at this year's Marco Island sequencing meeting evaluating short read aligners. He's compiled a partial list of aligners, which include first and foremost, Maq. "It’s safe to say that we decided to gamble on Maq over a year ago, and so far, the bet has paid off," he writes. Other options include Novoalign, Bowtie, cross_match, RMAP (which he hears the developers have stopped working on), and SOAP ("probably a tool to watch"). While his evaluations seem to beg for aligners that can handle gaps and paired end reads, his main criteria are speed, compatibility with in-house platforms, and "aligners that can beat Maq -- in performance, features, or sensitivity -- and that's not easy to do. Maq is fast and does quality-based alignment, single or paired-end, assembly, SNP calling… there's a reason why the rest of the industry seems to be conforming to it," he writes.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.