Genetics in Medicine Open (Jan 2024)

P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients

Matt Aruta,
Jard Knoblauch,
Tanaya Jadhav,
Emily Xiong,
Yue Xing,
Laura Conlin,
Ramakrishnan Rajagopalan

Affiliations

Matt Aruta: Children's Hospital of Philadelphia
Jard Knoblauch: Children's Hospital of Philadelphia
Tanaya Jadhav: Children's Hospital of Philadelphia
Emily Xiong: Children's Hospital of Philadelphia
Yue Xing: Children's Hospital of Philadelphia
Laura Conlin: Children's Hospital of Philadelphia
Ramakrishnan Rajagopalan: Children's Hospital of Philadelphia

Journal volume & issue: Vol. 2
p. 101527

Abstract

No abstracts available.

Published in Genetics in Medicine Open

ISSN: 2949-7744 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics; Medicine
Website: https://www.sciencedirect.com/journal/genetics-in-medicine-open

About the journal