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pro vyhledávání: '"Matthew John Ingham"'
Autor:
Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Charles Heath, Marta Gut, Ivo Glynne Gut
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Accurate analysis of mitochondrial DNA is important for mitochondrial disease clinical research and diagnostics. Here, authors present a method using Cas9 cleavage, nanopore sequencing and a custom pipeline to identify pathogenic variants, deletions
Externí odkaz:
https://doaj.org/article/5509dd67c124407290bff7e8473a500c
Autor:
Ieva Keraite, Philipp Becker, Davide Canevazzi, Maria C. Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Heath, Marta Gut, Ivo Glynne Gut
Methods to reconstruct the mitochondrial DNA (mtDNA) sequence using short-read sequencing come with an inherent bias due to amplification and mapping. They can fail to determine the phase of variants, to capture multiple deletions and to cover the mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f45f0caafebd7057ec3f12a78151ba7
https://doi.org/10.1101/2022.02.08.479581
https://doi.org/10.1101/2022.02.08.479581
