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...
| Үндсэн зохиолчид: | , , , , |
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| Формат: | Өгүүллэг |
| Хэл сонгох: | English |
| Хэвлэсэн: |
Elsevier
2025-01-01
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| Цуврал: | Genetics in Medicine Open |
| Нөхцлүүд: | |
| Онлайн хандалт: | http://www.sciencedirect.com/science/article/pii/S2949774425000019 |