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ACMG Issues Updated Practice Guidelines for Hearing Loss Evaluations

The update provides recommendations on how to approach genetic testing for individuals suspected of having syndromic or nonsyndromic hearing loss.

Sequencing-Based MRD Detection in Bone Marrow May Predict ALL Relapse After CAR T-Cell Therapy

Researchers looked at relapse-related markers over time in pediatric and young adult acute lymphoblastic leukemia patients after CAR T-cell treatment.

Childhood Brain Tumors in Crosshairs of New CHOP-led Sequencing Biobank Effort
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Investigators from the hospital's D3b program are leading development of what aims to be the largest clinically annotated pediatric brain tumor cohort study to date.

National Disease Research Interchange, Collaborators Win $12.5M NIH Grant for Biospecimen Effort

The partners will use the funds to secure pediatric biospecimens for the developmental Genotype-Tissue Expression project.

Long-Read Sequencing Emerges as Useful Tool to Study RNA Isoforms
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While short-read sequencing is still essential for studying RNA and gene expression, new methods are providing a sharper picture of transcript variants.

Nov 25, 2020

Pediatric Brain Tumor Proteomics Highlight Possible Treatment Targets, Biomarkers

Aug 18, 2020

CHOP Automates Phenotyping of Epilepsy Patients, Heralding 'EMR Genomics' Era
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Aug 7, 2020

Computational Tool Analyzes Noncoding Mutations to Classify Cancer Subtypes
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Apr 16, 2020

Human Tumor Atlas Network Team Shares Strategy for Tracking Tumor Transitions

Apr 6, 2020

Mass General, CHOP, Northwestern Med Get FDA EUAs for SARS-CoV-2 Tests

Mar 6, 2020

CHOP Shares Insights, Experience From Centralized Genomic Medicine Lab
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Jan 16, 2020

Rare CNVs Associated With Major Disease Categories in Large Study of European Subjects

Jan 8, 2020

RNA-Seq in Blood Cell Line Enables Molecular Diagnosis of Neurodevelopmental Disorders
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Oct 21, 2019

Children's Hospital Network Wins $8.5M NIH Grant to Expand Data-Sharing Initiative

Sep 16, 2019

Interoperability Network Helps Children's Hospitals Aggregate Genotype-Phenotype Data
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Aug 7, 2019

Pediatric Cancer Researchers, Clinicians Look to Enhance Molecular Data Collection, Distribution

May 16, 2019

Phenotypic Evaluation Helps Uncover Gene Variant Linked to Childhood Epilepsy

Apr 8, 2019

Cancer Sequencing Finds Germline Risk Variants in Many CHOP Pediatric Cancer Cases

Apr 5, 2019

CHOP Team Develops Computational Model to Predict Effects of Alternative Splicing
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Mar 28, 2019

New Consortium Outlines Vision for Pediatric Cell Atlas, Seeks Funding for Effort
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Jan 14, 2019

CHOP-Led 'Kids First' Portal Features Big Datasets Without Embargo
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Nov 9, 2018

National Cancer Institute Awards $4M to Brain Tumor Sequencing Projects

Oct 19, 2018

Epilepsy, Developmental Disorders Linked to De Novo Mutations in Calcium Channel Subunit

Oct 16, 2018

Team Taps Large Population PheWAS For Clues to Drug Targets, Side Effects

Sep 10, 2018

NIH-Backed Data Center for Pediatric Cancer Launches Research Portal

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The Scan

Study Reveals New Details About Genetics of Major Cause of Female Infertility

Researchers in Nature Medicine conducted a whole-exome sequencing study of mote than a thousand patients with premature ovarian insufficiency.

Circulating Tumor DNA Shows Potential as Biomarker in Rare Childhood Cancer

A study in the Journal of Clinical Oncology has found that circulating tumor DNA levels in rhabdomyosarcoma may serve as a biomarker for prognosis.

Study Recommends Cancer Screening for Dogs Beginning Age Seven, Depending on Breed

PetDx researchers report in PLOS One that annual cancer screening for dogs should begin by age seven.

White-Tailed Deer Harbor SARS-CoV-2 Variants No Longer Infecting Humans, Study Finds

A new study in PNAS has found that white-tailed deer could act as a reservoir of SARS-CoV-2 variants no longer found among humans.