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Structural variation across 138,134 samples in the TOPMed consortium
Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence data is non-trivial and requires a balance between comprehensiveness and precision....
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900832/ https://www.ncbi.nlm.nih.gov/pubmed/36747810 http://dx.doi.org/10.1101/2023.01.25.525428 |