Cargando…
WisecondorFF: Improved Fetal Aneuploidy Detection from Shallow WGS through Fragment Length Analysis
In prenatal diagnostics, NIPT screening utilizing read coverage-based profiles obtained from shallow WGS data is routinely used to detect fetal CNVs. From this same data, fragment size distributions of fetal and maternal DNA fragments can be derived, which are known to be different, and often used t...
Autores principales: | Mokveld, Tom, Al-Ars, Zaid, Sistermans, Erik A., Reinders, Marcel |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774687/ https://www.ncbi.nlm.nih.gov/pubmed/35054227 http://dx.doi.org/10.3390/diagnostics12010059 |
Ejemplares similares
-
WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme
por: Straver, Roy, et al.
Publicado: (2014) -
A comprehensive performance analysis of sequence-based within-sample testing NIPT methods
por: Mokveld, Tom, et al.
Publicado: (2023) -
CHOP: haplotype-aware path indexing in population graphs
por: Mokveld, Tom, et al.
Publicado: (2020) -
WisecondorX: improved copy number detection for routine shallow whole-genome sequencing
por: Raman, Lennart, et al.
Publicado: (2019) -
Comparative analysis of somatic variant calling on matched FF and FFPE WGS samples
por: de Schaetzen van Brienen, Louise, et al.
Publicado: (2020)