ABSTRACT

Introduction

The human genome contains the instructions for the development and biological homeostasis of the human organism and the genetic transmission of traits. Genome variation in human populations is the basis of evolution; individual or personal genomes vary tremendously, making each of us truly unique.

Areas covered

Assaying this individual variation using genomic technologies has many applications in clinical medicine, from elucidating the biology of disease to designing strategies to ameliorate perturbations from homeostasis. Detecting pathogenic rare variation in a genome may provide a molecular diagnosis that can be informative for patient management and family healthcare.

Expert opinion

Despite the increasing clinical use of unbiased genomic testing, including chromosome microarray analysis (CMA) with array comparative genomic hybridization (aCGH) or SNP arrays, clinical exome sequencing (cES), and whole-genome sequencing (WGS), to survey genome-wide for molecular aberrations, clinical acumen paired with an understanding of the limitations of each testing type will be needed to achieve molecular diagnoses. Potential opportunities for improving case solved rates, functionally annotating the majority of genes in the human genome, and further understanding genetic contributions to disease will empower clinical genomics and the precision medicine initiative.

中文翻译：

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诊断实验室中的临床基因组学和背景化基因组变异。

摘要

介绍

人类基因组包含人类机体发育和生物稳态以及性状遗传传递的指令。人类种群的基因组变异是进化的基础；个体或个人基因组差异巨大，使我们每个人都真正独一无二。

覆盖区域

使用基因组技术分析这种个体变异在临床医学中有许多应用，从阐明疾病的生物学到设计改善体内平衡扰动的策略。检测基因组中的致病性罕见变异可能会提供分子诊断，可为患者管理和家庭医疗保健提供信息。

专家意见

尽管临床上越来越多地使用无偏基因组检测，包括染色体微阵列分析 (CMA) 与阵列比较基因组杂交 (aCGH) 或 SNP 阵列、临床外显子组测序 (cES) 和全基因组测序 (WGS)，以调查全基因组对于分子畸变，需要临床敏锐度和对每种检测类型局限性的理解才能实现分子诊断。提高病例解决率、对人类基因组中的大多数基因进行功能性注释以及进一步了解遗传对疾病的贡献的潜在机会将为临床基因组学和精准医学计划提供支持。