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structural variation analysis

The San Diego-based genome mapping company attributed the drop in revenues to fewer international sales of its Saphyr platform.

The company reported $1.9 million in Q1 revenues amid a widened net loss of $7.9 million that was driven by increased operating expenses.

The project plans to sequence 20,000 genomes in 2019, 50,000 by the end of 2020, and a total of 100,000 by the end of 2021 using Oxford Nanopore's PromethIon platform.

A structural variant analysis based on genome sequences for almost 800 multiple myeloma cases suggests a IgL translocation present in nearly 10 percent of patients may inform survival.

The study used a variety of sequencing and mapping technologies, including from Illumina, Pacific Biosciences, 10X Genomics, Bionano Genomics, and Oxford Nanopore.

With gut metagenomic sequences from two population cohorts, investigators identified associations between health traits and microbial structural variants.

In Nucleic Acids Research this week: characterization of imprinted DNA methylation sites, origins of germline structural variants, and more.

In Cell this week: somatic mtDNA mutation-based "genetic barcode" method, molecular mechanisms behind structural variants at 17p11.2, and more.

A team led by researchers at the University of California, San Francisco generated optical genome maps for 154 individuals from more than two dozen populations.

Several groups are comparing Bionano with standard cytogenetic assays like karyotyping, FISH, or array CGH for blood cancer or genetic disease testing.

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The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.