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Scientists introduced an indel to a promoter region to mimic a benign, naturally-occurring mutation that activated fetal hemoglobin production.

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

Cavatica is a project of CHOP's Center for Data Driven Discovery in Biomedicine and is part of its commitment to the Precision Medicine Initiative.

Using genomic data for pediatric low-grade gliomas, researchers uncovered a MYB-QKI fusion that appears to drive angiocentric glioma development.

The Center for Data Driven Discovery in Biomedicine is a joint project of CHOP Research Institute and CHOP's Department of Biomedical Health and Informatics. 

The results showed that syndromic forms of autism are more likely when children have alterations of genes in the mGluR pathway.

Using genotyping data, the Children's Hospital of Philadelphia-led team found high heritability across pediatric-onset autoimmune diseases.

Through a meta-analysis of 10 pediatric-onset autoimmune diseases, Children's Hospital of Philadelphia researchers found 22 loci shared among the conditions.

The funding will support work identifying the mechanisms underlying the differential responses among pediatric and adult ALL patients to therapy.

A group of 10 so-called PediSeeker volunteers from the Children's Hospital of Philadelphia interpreted secondary variants in PediSeq exomes.

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New analyses indicate female researchers are publishing less during the coronavirus pandemic than male researchers, according to Nature News.

A study suggests people with the ApoE e4 genotype may be more likely to have severe COVID-19 than those with other genotypes, the Guardian says.

Direct-to-consumer genetic testing companies are searching for a genetic reason for why some people, but not others, become gravely ill with COVID-19, the Detroit Free Press reports.

In PNAS this week: forward genetics-base analysis of retinal development, interactions of T cell receptors with neoantigens in colorectal cancer, and more.