CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA
Purpose: Newborn screening identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) is used for identifying and phasing genomic variants, but further efforts are needed to develop LRS for applications using...
| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
Elsevier
2025-01-01
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| Colecção: | Genetics in Medicine Open |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2949774425000019 |