SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies
Abstract In developed countries, Newborn Screening (NBS) programs aim to detect treatable yet clinically silent disorders. The selection of disorders to be included in NBS considers severity, treatment availability, prevalence, and analysis cost. However, numerous genetic disorders remain excluded f...
Saved in:
| Main Authors: | Anne Kristine Schack, M. Carmen Garrido-Navas, David Galevski, Gjorgji Madjarov, Lukasz Krych |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-11-01
|
| Series: | Human Genomics |
| Online Access: | https://doi.org/10.1186/s40246-024-00690-w |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Get ready for short tandem repeats analysis using long reads-the challenges and the state of the art
by: Marija Chaushevska, et al.
Published: (2025-07-01) -
Implementation of circulating cell-free DNA screening for fetal aneuploidies
by: Madrigal Bajo Irene, et al.
Published: (2025-03-01) -
Mouse Models of Aneuploidy
by: Olivia Sheppard, et al.
Published: (2012-01-01) -
CRISPR/Cas-Based Prenatal Screening for Aneuploidy: Challenges and Opportunities for Early Diagnosis
by: Irisappan Ganesh, et al.
Published: (2025-03-01) -
P543: Prenatal aneuploidy screening and testing decisions: A qualitative study of patient motivations and misconceptions in the age of cell-Free DNA
by: Margaret Thorsen, et al.
Published: (2025-01-01)