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1.
Exome variant discrepancies due to reference-genome differences.
Am J Hum Genet
; 108(7): 1239-1250, 2021 07 01.
Article
in English
| MEDLINE | ID: mdl-34129815
2.
FixItFelix: improving genomic analysis by fixing reference errors.
Genome Biol
; 24(1): 31, 2023 02 21.
Article
in English
| MEDLINE | ID: mdl-36810122
3.
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.
Gigascience
; 122022 12 28.
Article
in English
| MEDLINE | ID: mdl-36644891
4.
Benchmarking challenging small variants with linked and long reads.
Cell Genom
; 2(5)2022 May.
Article
in English
| MEDLINE | ID: mdl-36452119
5.
Curated variation benchmarks for challenging medically relevant autosomal genes.
Nat Biotechnol
; 40(5): 672-680, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35132260
6.
A diploid assembly-based benchmark for variants in the major histocompatibility complex.
Nat Commun
; 11(1): 4794, 2020 09 22.
Article
in English
| MEDLINE | ID: mdl-32963235
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