Homo sapiens Targeted Locus (Loci). Homo sapiens

Targeted sequencing (including 247 genes) of 107 ALS patients. The aim of the study was to further delineate the genetic architecture of the Hungarian ALS patients: we aimed to detect potentially damaging variants in major and minor ALS genes and in genes related to other neurogenetic disorders.

本研究针对107例肌萎缩侧索硬化症（Amyotrophic Lateral Sclerosis，ALS）患者实施了包含247个基因的靶向测序（Targeted Sequencing）。本研究旨在进一步厘清匈牙利ALS患者的遗传结构，具体目标为在主要、次要ALS相关基因以及与其他神经遗传疾病（Neurogenetic Disorders）相关的基因中，检测潜在致病变异。