FixItFelix: improving genomic analysis by fixing reference errors

FixItFelix: improving genomic analysis by fixing reference errors

Abstract The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the variant calling of 33 protein-coding genes, including 12 with medical relevance. Here, we present FixItFe...

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Bibliographic Details
Main Authors: Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F. Paulin, Jesse Farek, Daniela C. Soto, Stephen C. J. Parker, Albert V. Smith, Megan Y. Dennis, Justin M. Zook, Fritz J. Sedlazeck
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Genome Biology
Subjects:
Reference
GRCh38
T2T-CHM13
Variant
SNV
INDEL
Online Access:https://doi.org/10.1186/s13059-023-02863-7

Internet

https://doi.org/10.1186/s13059-023-02863-7

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