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The researchers identified rare germline loss-of-function variants across the ELP1 gene in 14 percent of pediatric patients in a medulloblastoma subgroup.
A population of progenitor cells identified in mouse models of the Sonic Hedgehog medulloblastoma subtype led to a gene that is highly expressed in patients with poor outcomes.
Using single-cell RNA-seq and other approaches, researchers looked at the four known medulloblastoma subtypes and the brain cell types from which they arise.
Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
An international team found that survival estimates differed significantly between patients with germline mutations in different medulloblastoma predisposition genes.
In Nature this week: investigation into the genetics of medulloblastoma, and more.
With mutation, expression, and epigenetic features from hundreds of medulloblastoma tumors, researchers characterized key features of brain tumor subtypes.
A multi-region analysis of medulloblastoma and other tumor types highlighted the dramatic somatic alteration differences that can crop up within a single tumor.
The team also potentially identified the cells of origin for the most common medulloblastoma subtype, which could help develop novel therapeutics.
Researchers have found that mutations present in medulloblastoma tumors at relapse differ substantially from those present at diagnosis.
Two COVID-19 vaccine developers have released their trial protocols to build public trust, the New York Times reports.
A new analysis finds the rapid COVID-19 test from DnaNudge to be highly accurate, Reuters reports.
In Science this week: global citizens' assembly on genome-editing technologies proposed, epigenetic markers predict metformin response, and more.
According to the Verge, many US states are not including positive results from rapid COVID-19 testing in their case numbers.