2026-04-13T02:27:07Zhttps://recercat.cat/oai/request
oai:recercat.cat:2445/1203362025-12-04T19:02:06Zcom_2072_1057col_2072_478777col_2072_478906col_2072_478917
RECERCAT author Gómez Ramos, Alberto author Picher, Angel J. author García-García, Esther author Garrido, Patricia author Hernández, Félix author Soriano García, Eduardo author Avila, Jesús 2018-02-28T13:52:26Z2018-02-28T13:52:26Z2017-01-192018-02-28T13:52:26Z Next-generation sequencing techniques and genome-wide association study analyses have provided a huge amount of data, thereby enabling the identification of DNA variations and mutations related to disease pathogenesis. New techniques and software tools have been developed to improve the accuracy and reliability of this identification. Most of these tools have been designed to discover and validate single nucleotide variants (SNVs). However, in addition to germ-line mutations, human tissues bear genomic mosaicism, which implies that somatic events are present only in low percentages of cells within a given tissue, thereby hindering the validation of these variations using standard genetic tools. Here we propose a new method to validate some of these somatic mutations. We combine a recently developed software with a method that cuts DNA by using restriction enzymes at the sites of the variation. The non-cleaved molecules, which bear the SNV, can then be amplified and sequenced using Sanger's technique. This procedure, which allows the detection of alternative alleles present in as few as 10% of cells, could be of value for the identification and validation of low frequency somatic events in a variety of tissues and diseases. (c) Gómez Ramos, Alberto et al., 2017 info:eu-repo/semantics/openAccess Malaltia d'Alzheimer Nucleòtids Alzheimer's disease Nucleotides Validation of suspected somatic Single Nucleotide Variations in the brain of Alzheimer disease patients info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion