Genetics in Medicine Open (Jan 2023)

P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes*

Emily Farrow,
Isabelle Thiffault,
Ana Cohen,
Tricia Zion,
Adam Walter,
Margaret Gibson,
Chengpeng Bi,
Warren Cheung,
Jeffrey Johnston,
Tomi Pastinen

Affiliations

Emily Farrow: Children's Mercy Hospital
Isabelle Thiffault: Children's Mercy Hospital
Ana Cohen: Children's Mercy Hospital
Tricia Zion: Children's Mercy Hospital
Adam Walter: Children's Mercy Hospital
Margaret Gibson: Children's Mercy Hospital
Chengpeng Bi: Children's Mercy Hospital
Warren Cheung: Children's Mercy Hospital
Jeffrey Johnston: Children's Mercy Hospital
Tomi Pastinen: Children's Mercy Hospital

Journal volume & issue: Vol. 1, no. 1
p. 100505

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