de novo sequencing

Jean-Laurent Casanova aims to identify single-gene mutations that compromise the immunity of normally healthy individuals and lead to severe infectious disease.

The team discovered a history of multiple major interspecies admixture events in elephant evolution, altering past beliefs of separate genealogical trees.  


An Australian team used Pacific Biosciences long reads, 10X Genomics linked reads, and Bionano Genomics mapping to assemble a desert dingo genome de novo.

The researchers also found fixed variants in the tortoise genome linked to the immune system, which may help manage the health of the threatened species.

The researchers sequenced bacteria samples sourced from all over the world to reconstruct a phylogenetic tree and learn how it evolved to have multidrug resistance. 

At the conference, the Broad Institute's David Jaffe presented a strategy for sequencing reference genomes from many different horses for an estimated price tag of around $25,000 apiece.

By doing exome sequencing on individuals from 14 families affected by sporadic schizophrenia, researchers have identified de novo mutations specifically found in individuals with the psychiatric condition.

The researchers sequenced the genome to five-fold coverage on Roche's 454 GS FLX and covered around 95 percent of known wheat genes. Over the next year, the researchers will sequence four additional varieties on Life Technologies' SOLiD.

The study is one of the first in which researchers sequenced and de novo assembled a large mammalian genome using only short-read technology

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The US Food and Drug Administration has approved Alnylam's RNAi-based therapy Onpattro, according to Stat News.

Harvard Medical School's Seth Cassel and Cigall Kadoch argue in a Baltimore Sun op-ed that the recent TAILORx trial shows the potential of genomic-based medicine.

Researchers in the UK are working on using gene drives to control malaria-carrying mosquitoes, the Telegraph reports.

In PLOS this week: genetic architecture mediating gene expression, metabolomic patterns in multiple myeloma, and more.