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structural variation analysis

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.

In Nucleic Acids Research this week: microRNAs influence cell type transitions in triple-negative breast cancers, oxidative DNA damage patterns in yeast, and more.

In Cell this week:  factors that regulate the differentiation of T helper type 2, structural variants teased out from long-read sequenced human genomes, and more.

At the PAG conference, researchers said they are sequencing 100 tomato genomes in 100 days using Oxford Nanopore's PromethIon and a pipeline for maximizing SV diversity.

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GenomeWeb reports that Veritas Genetics is suspending its US operations.

A Brazilian-led team of researchers reports it has generated a sugarcane genome assembly that encompasses more than 99 percent of its genome.

Certain plasma proteins could be used to gauge a person's age and whether they are aging well, according to HealthDay News.

In Science this week: approach to measure microRNA targeting efficiency, strategy to conduct high-throughput chemical screens at single-cell resolution, and more.