Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.
Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.
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DOI：
10.3389/fgene.2020.544162
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发表时间：
2020
影响因子：
3.7
通讯作者：
de Oliveira T
中科院分区：
文献类型：
--
作者：
Kanzi AM;San JE;Chimukangara B;Wilkinson E;Fish M;Ramsuran V;de Oliveira T
孟德尔和复杂遗传性状疾病继续在社会和经济上给社会带来负担和影响。缺乏有效的测试阻碍了诊断，因此，受影响的缺乏适当的预后。孟德尔疾病是由单一基因的遗传突变引起的，而复杂性状疾病是由连锁或非连锁基因组区域的突变积累引起的。特别是随着下一代和第三代测序的引入，在识别与突变相关的新疾病方面取得了重大进展。无论如何，一些疾病仍然没有诊断，因为大多数测试依赖于从基于人群的遗传分析开发的SNP基因分型面板。使用全基因组、全外显子组或一组基因进行家族遗传分析已被证明在识别致病突变方面是有效的。在这篇综述中，我们讨论了下一代和第三代测序平台，生物信息学工具和遗传资源，通常用于分析基于家族的基因组数据，重点是识别遗传或新的致病突变。此外，我们还强调了与分析个人基因组相关的分析，伦理和监管挑战，这些基因组构成了用于家庭遗传遗传的数据。
Mendelian and complex genetic trait diseases continue to burden and affect society both socially and economically. The lack of effective tests has hampered diagnosis thus, the affected lack proper prognosis. Mendelian diseases are caused by genetic mutations in a singular gene while complex trait diseases are caused by the accumulation of mutations in either linked or unlinked genomic regions. Significant advances have been made in identifying novel diseases associated mutations especially with the introduction of next generation and third generation sequencing. Regardless, some diseases are still without diagnosis as most tests rely on SNP genotyping panels developed from population based genetic analyses. Analysis of family genetic inheritance using whole genomes, whole exomes or a panel of genes has been shown to be effective in identifying disease-causing mutations. In this review, we discuss next generation and third generation sequencing platforms, bioinformatic tools and genetic resources commonly used to analyze family based genomic data with a focus on identifying inherited or novel disease-causing mutations. Additionally, we also highlight the analytical, ethical and regulatory challenges associated with analyzing personal genomes which constitute the data used for family genetic inheritance.
影响因子：
3
作者：
Tom N;Tom O;Malcikova J;Pavlova S;Kubesova B;Rausch T;Kolarik M;Benes V;Bystry V;Pospisilova S
通讯作者：
Pospisilova S
影响因子：
5.3
作者：
Bahlo, Melanie;Tankard, Rick;Lukic, Vesna;Oliver, Karen L.;Smith, Katherine R.
通讯作者：
Smith, Katherine R.
影响因子：
3
作者：
Shetty AC;Athri P;Mondal K;Horner VL;Steinberg KM;Patel V;Caspary T;Cutler DJ;Zwick ME
通讯作者：
Zwick ME