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trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios

BACKGROUND: When analyzing DNA sequence data of an individual, knowing which nucleotide was inherited from each parent can be beneficial when trying to identify certain types of DNA variants. Mendelian inheritance logic can be used to accurately phase (haplotype) the majority (67–83%) of an individu...

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Detalles Bibliográficos
Autores principales: Miller, Dustin B., Piccolo, Stephen R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607709/
https://www.ncbi.nlm.nih.gov/pubmed/34809557
http://dx.doi.org/10.1186/s12859-021-04470-4