Titlebook: Disease Gene Identification; Methods and Protocol Johanna K.‘DiStefano Book 2018Latest edition Springer Science+Business Media, LLC 2018 bi

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RNA Interference to Knock Down Gene Expressiongradation. As a tool for knocking down the expression of individual genes posttranscriptionally, RNAi has been widely used to study the cellular function of genes. In this chapter, I describe procedures for using gene-specific, synthetic, short interfering RNA (siRNA) to induce gene silencing in mam

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Irina Khmyrova-Pruel,Alexander Koloskovfacilitated the discovery of causal mutations in both rare, monogenic diseases and common, heterogeneous disorders, leading to unprecedented improvements in disease diagnosis and treatment strategies. Given the rapid evolution of NGS platforms, it is now possible to analyze whole genomes and exomes

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Asya Berberyan,Ruzanna Gabrielyanmponent influencing, the disease phenotype. The breakthrough development of induced pluripotent stem cell (iPSC) technology represents a quantum leap in experimental modeling of human diseases, providing investigators with a self-renewing and, thus, unlimited source of pluripotent cells for targeted