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Mar 20, 2015

Scientists Sequence ALL Clones to Track Mutations Driving Relapse

Whole-exome sequencing shows that relapse in acute lymphoblastic leukemia is driven by cancer cells with sneakier, rather than more numerous, mutations.

Nov 21, 2014

GWAS Finds Four New Risk Sites for Inflammatory Food Allergy

Using a genome-wide association study approach, investigators at the Children's Hospital of Philadelphia and elsewhere have uncovered four new risk loci for an inflammatory food allergy condition called eosinophilic esophagitis.

Nov 12, 2014

Medgenics, CHOP Collaborate on Pediatric Rare, Orphan Genetic Diseases

NEW YORK (GenomeWeb) – Medgenics announced on Wednesday a collaboration with the Children's Hospital of Philadelphia to accelerate the development of new therapies for pediatric rare and orphan genetic diseases.

Nov 12, 2014

Study Teases Out Truly Drug-sensitive ALK Mutations ahead of Neuroblastoma Phase III Trial

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NEW YORK (Genomeweb) — A study comprehensively analyzing the genomes of more than 1,500 neuroblastoma cases has better determined the prognostic significance of ALK mutations and other alterations in neuroblastoma, and has biochemically investigated many of these variants to determine which ones

Sep 26, 2014

Researchers Link De Novo Mutations to Epileptic Encephalopathies

NEW YORK (GenomeWeb) – In the American Journal of Human Genetics, researchers from three consortia report a prominent role for de novo mutations in epileptic encephalopathies.

Jun 06, 2014

CHOP-led Team Describes Altered Autism Networks

NEW YORK (GenomeWeb News) – A Children's Hospital of Philadelphia-led team has identified autism spectrum disorder-related changes in three interacting gene sets, spelling out details about the biological processes behind the neuropsychiatric conditions.

Jun 04, 2014

CORRECTION: Omixon, CHOP to Commercialize New HLA Genotyping Assay for MiSeq

This article has been corrected to list all of the genes targeted by the assay. The previous version noted only one of them.

Mar 27, 2014

ACMG Talk Spells Out Details of Medical Exome Project

NASHVILLE, Tenn.

Mar 27, 2014

ACMG Session Highlights Progress Made by CSER Projects

NASHVILLE, Tenn.

Mar 07, 2014

Friedreich's Ataxia Center of Excellence Created with $3.25M Gift

NEW YORK (GenomeWeb News) – The Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence has been created with a $3.25 million gift from the Friedreich's Ataxia Research Alliance (FARA) in partnership with the Hamilton and Finneran families.

Breaking News

The Scan

Genomics to Trace, Prevent

Nature News reports that genomics is being applied to trace and try to prevent additional COVID-19 waves.

Sense of Scope in San Diego

Rady's Children Hospital and San Diego County are teaming up to test pediatric patients and their families for COVID-19 to gauge the spread of the virus locally, according to the San Diego Union-Tribune.

Boost to Wolf Diversity

Wildlife managers aim to boost the genetic diversity of Mexican gray wolves by placing captive-born foster pups into packs with similarly aged wild pups, the Mercury News reports.

Science Papers Present Algorithm to Diagnose Slowly Progressing Diseases, Korean Genome Project

In Science this week: Genetic Probability tool identifies likely diagnoses in 45 percent of inflammatory arthritis cases, and more.

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