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| A complete reference genome improves analysis of human genetic variation S Aganezov*, SM Yan*, DC Soto*, M Kirsche*, S Zarate*, P Avdeyev, ... Science 376 (6588), eabl3533, 2022 | 203 | 2022 |
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| The complete sequence of a human Y chromosome A Rhie, S Nurk, M Cechova, SJ Hoyt, DJ Taylor, N Altemose, PW Hook, ... Nature 621 (7978), 344-354, 2023 | 114 | 2023 |
| Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space MC Schatz, AA Philippakis, E Afgan, E Banks, VJ Carey, RJ Carroll, ... Cell Genomics 2 (1), 2022 | 88 | 2022 |
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| Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes FJ Sedlazeck, B Yu, AJ Mansfield, H Chen, O Krasheninina, A Tin, Q Qi, ... bioRxiv, 2020.05. 02.074096, 2020 | 6 | 2020 |
| A complete human reference genome improves variant calling for population and clinical genomics S Aganezov, SM Yan, DC Soto, M Kirsche, S Zarate, P Avdeyev, ... bioRxiv (to appear), 2021 | 4 | 2021 |
| Concerning the eXclusion in human genomics: the choice of sex chromosome representation in the human genome drastically affects the number of identified variants BJ Pinto, B O’Connor, MC Schatz, S Zarate, MA Wilson G3: Genes, Genomes, Genetics 13 (10), jkad169, 2023 | 3 | 2023 |
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| The human reference genome is finally complete DC Soto, M Kirsche, SM Yan, S Zarate TheScienceBreaker 9 (3), 2023 | | 2023 |
| Genomic variant calling at scale across human populations SL Zarate Johns Hopkins University, 2023 | | 2023 |
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston TX 77030Dirección de correo verificada de bcm.edu
