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Maximal Segmental Score Method for Localizing Recessive Disease Variants Based on Sequence Data

BACKGROUND: Due to the affordability of whole-genome sequencing, the genetic association design can now address rare diseases. However, some common statistical association methods only consider homozygosity mapping and need several criteria, such as sliding windows of a given size and statistical si...

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Detalles Bibliográficos
Autores principales: Hsieh, Ai-Ru, Sie, Jia Jyun, Chang, Chien Ching, Ott, Jurg, Lian, Ie-Bin, Fann, Cathy S. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325894/
https://www.ncbi.nlm.nih.gov/pubmed/32655614
http://dx.doi.org/10.3389/fgene.2020.00555