ESHG
ESHG: Parental Mosaicism Raises Recurrence Risk in Families With Presumed De Novo Variant Disorders
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A study by researchers in Germany found that 4 percent of presumed de novo variants in affected children were in fact inherited from a mosaic parent, in most cases the father.
In a trial of 23 Lynch syndrome patients, those who received the vaccine and developed neoantigen-specific T cells had a higher chance of remaining disease-free over 10 years.
ESHG: Short-Read Genome Sequencing Boosts Rare Disease Diagnoses in European Solve-RD Project
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So far, 90 out of 836 or about 10 percent of families who were analyzed by short-read genome sequencing as part of Solve-RD have received a diagnosis.
A phenome-wide association study of methylated GC-rich tandem repeat expansions identified a GCC expansion in AFF3 linked to intellectual disability.
ESHG: High-Risk Pediatric Cancer Survival More Than Doubles in Australian Precision Medicine Trial
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More than 40 percent of patients in the Zero Childhood Cancer precision medicine program received a treatment recommendation based on their multiomic profiling results.