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Hospital for Sick Children

Researchers reported on the impact sequencing projects have already had on participants, as well as the challenges, particularly in data interpretation and storage.

The recommendations resulted from two meetings that brought together physicians, lab workers, researchers, genetic counselors, and patient families from the US and Canada.

Researchers have found that mutations present in medulloblastoma tumors at relapse differ substantially from those present at diagnosis.

Removing exon duplications is just one way in which the genome editing technology could be applied to treat hereditary genetic diseases.

Researchers found that array-based testing and exome sequencing contributed uniquely to ASD diagnosis, and that the diagnostic yield of testing was higher in complex autism cases.

BioTeam has developed a web portal for the MSSNG repository that offers easy access to genomic, phenotype, and clinical data collected through the project.

David Glazer from Google Genomics provided an update on the MSSNG project, a collaboration between Autism Speaks, The Hospital for Sick Children in Toronto, and Google.

The group is currently comparing a lab-developed nCounter assay to "gold-standard" RT-PCR assays to retrospectively analyze sarcoma patient samples.

Researchers identified a form of ultra-hypermutated cancer that occurs in individuals with inherited and somatic mutations in their DNA repair machinery.

Genome sequences generated for the Autism Speaks MSSNG project provided evidence of genetic heterogeneity in 85 families, each containing two children affected by autism spectrum disorder.

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Mainichi reports that 43 percent of Japanese individuals said they did not want to eat agricultural products that had been modified using gene-editing tools.

Two US Department of Agriculture research departments are moving to the Kansas City area, according to the Washington Post.

Slate's Jane Hu compares some at-home genetic tests to astrology.

In PLOS this week: analysis of polygenic risk scores for skin cancer, chronic pain GWAS, and more.