Article
Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.
Molecular genetics and genomics : MGG - 1 Aug 2016
Paninka Rolf M, Mazzotti Diego R, Kizys Marina M L, Vidi Angela C, Rodrigues Hélio, Silva Silas P, Kunii Ilda S, Furuzawa Gilberto K, Arcisio-Miranda Manoel, Dias-da-Silva Magnus R
Abstract excerpt
Next-generation sequencing (NGS) has enriched the understanding of the human genome. However, homologous or repetitive sequences shared among genes frequently produce dubious alignments and can puzzle NGS mutation analysis, especially for paralogous potassium channels. Potassium inward rectifier (Kir) channels are important to establish the resting membrane potential and regulating the muscle excitability....
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