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Profil bibliographique

Jeremy Costanza

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

8Publications signalées
0Citations signalées
1Affiliations récentes

Les institutions déclarées

Les domaines associés

Genomics and Rare DiseasesBRCA gene mutations in cancerAcute Lymphoblastic Leukemia researchBiomedical Text Mining and OntologiesGenetics, Bioinformatics, and Biomedical Research

Les publications récentes

Accès ouvert 2026 article OpenAlex

The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies

David M. Higgins, Christopher Blackden, M Brown, Christina Diaz et autres

Nine-year-old brain tumor patient Gabriella Miller challenged members of Congress to "stop talking and start doing" when providing federal funding for research into cures for pediatric cancer and congenital anomalies. Though she ultimately lost her life to that cancer, her advocacy efforts …

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0 citations The American Journal of Human Genetics
Accès ouvert 2026 article OpenAlex

Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants

Keyang Yu, Haoquan Zhao, Andrea Wilderman, Tierra R. Farris et autres

MOTIVATION: Methods for sharing gene regulatory information and knowledge on FAIR principles, particularly in the context of tissue-specific gene regulation, remain poorly defined and implemented, hampering discovery and clinical genetic diagnosis. RESULTS: We specified FAIR principles for tissue-specific gene regulatory information and …

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0 citations Bioinformatics
Accès ouvert 2025 article OpenAlex

METB-10. Analyzing both germline and somatic variants using Variant WorkBench in the Kids First Data Resource Portal: Children’s Brain Tumor Network as an example

Yiran Guo, Jared Rozowsky, Jean-Philippe Thibert, Qi Li et autres

Abstract Aiming at facilitating researchers to uncover new insights into the biology of childhood cancers and structural birth defects, the Gabriella Miller Kids First Pediatric Research Program (Kids First) is initiated. The Kids First Data Resource Center (KFDRC) developed the Kids First …

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0 citations Neuro-Oncology Pediatrics
2025 conference-abstract OpenAlex

Abstract LB340: Analyzing both germline and somatic variants using Variant WorkBench in the Kids First Data Resource Portal: Children’s Brain Tumor Network as an example

Yiran Guo, Jared Rozowsky, Jean-Philippe Thibert, Qi Li et autres

Abstract Aiming at facilitating researchers to uncover new insights into the biology of childhood cancers and structural birth defects, the Gabriella Miller Kids First Pediatric Research Program (Kids First) is initiated. The Kids First Data Resource Center (KFDRC) developed the Kids First …

us, ca (code pays fourni par la source)

0 citations Cancer Research
Accès ouvert 2024 conference-abstract OpenAlex

METB-09. VARIANT WORKBENCH IN THE KIDS FIRST PROGRAM FACILITATES GENOMIC DISCOVERIES IN PEDIATRIC NEURO-ONCOLOGY RESEARCH

Yiran Guo, Qi Li, Jare Rozowsky, Jeremy Costanza et autres

Abstract The Gabriella Miller Kids First Pediatric Research Program (Kids First) aims at facilitating researchers to uncover new insights into the biology of childhood cancer and structural birth defects, including the discovery of shared genetic pathways between these disorders. Kids First Data …

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0 citations Neuro-Oncology
Accès ouvert 2024 article OpenAlex

P832: Discovering phenotype-gene correlations using Variant WorkBench

Yiran Guo, Qi Li, Jared Rozowsky, Jeremy Costanza et autres

The Gabriella Miller Kids First Pediatric Research Program (Kids First) aims at facilitating researchers to uncover new insights into the biology of childhood cancer and structural birth defects, including the discovery of shared genetic pathways between these disorders. Kids First Data Resource …

us, ca (code pays fourni par la source)

0 citations Genetics in Medicine Open
2022 conference-abstract OpenAlex

Abstract LB501: Making discoveries with Kids First Variant DataBase and WorkBench

Yiran Guo, Jeremy Costanza, Christophe Botek, Miguel Brown et autres

Abstract The Gabriella Miller Kids First Pediatric Research Program (Kids First) aims at facilitating researchers to uncover new insights into the biology of childhood cancer (CC) and structural birth defects (SBD), including the discovery of shared genetic pathways between these disorders. Kids …

us, ca (code pays fourni par la source)

0 citations Cancer Research
Accès ouvert 2022 conference-abstract OpenAlex

OTHR-45. Kids First Variant WorkBench: application to germline genomic discoveries in the Children's Brain Tumor Network

Yiran Guo, Jeremy Costanza, Christophe Botek, Miguel Brown et autres

Abstract The Gabriella Miller Kids First Pediatric Research Program (Kids First) aims at facilitating researchers to uncover new insights into the biology of childhood cancer (CC) and structural birth defects (SBD). Kids First has two initiatives, i) whole genome sequencing of biospecimens …

us, ca (code pays fourni par la source)

0 citations Neuro-Oncology

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