FixItFelix: improving genomic analysis by fixing reference errors

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 FixItFelix, an e...

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Bibliographic Details
Published in:	Genome Biology Vol. 24; no. 1; p. 31
Main Authors:	Behera, Sairam, LeFaive, Jonathon, Orchard, Peter, Mahmoud, Medhat, Paulin, Luis F., Farek, Jesse, Soto, Daniela C., Parker, Stephen C. J., Smith, Albert V., Dennis, Megan Y., Zook, Justin M., Sedlazeck, Fritz J.
Format:	Journal Article
Language:	English
Published:	London BioMed Central 21.02.2023 Springer Nature B.V BMC
Subjects:	Animal Genetics and Genomics Bioinformatics Biomedical and Life Sciences Evolutionary Biology genome Genome, Human Genomes Genomic analysis Genomics GRCh38 High-Throughput Nucleotide Sequencing Human Genetics Humans INDEL Life Sciences Method Microbial Genetics and Genomics nationalities and ethnic groups Plant Genetics and Genomics Sequence Analysis, DNA SNV T2T-CHM13 Variant Variant GIAB T2T-CHM13 Remapping Reference SNV eQTL Medically relevant genes GRCh38 INDEL
ISSN:	1474-760X, 1474-7596, 1474-760X
Online Access:	Get full text
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