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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
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