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Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics

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Published in:GigaScience
Format: Online Article RSS Article
Published: 2026
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spellingShingle Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics
Biology
Natural Sciences — Life Sciences
Natural Sciences
sub_discipline_display Natural Sciences — Life Sciences
sub_discipline_facet Natural Sciences — Life Sciences
subject_display Biology
Natural Sciences — Life Sciences
Natural Sciences
Biology
Natural Sciences — Life Sciences
Natural Sciences
subject_facet Biology
Natural Sciences — Life Sciences
Natural Sciences
title Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics
title_auth Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics
title_full Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics
title_fullStr Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics
title_full_unstemmed Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics
title_short Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics
title_sort multiplatform comparisons and annotation of structural variants highlight the utility of the t2t reference genome in human diagnostics
topic Biology
Natural Sciences — Life Sciences
Natural Sciences
url https://academic.oup.com/gigascience/article/doi/10.1093/gigascience/giag027/8660741?rss=1