Integrated ACMG-approved genes and ICD codes for the translational research and precision medicine.
Integrated ACMG-approved genes and ICD codes for the translational research and precision medicine.
复制标题
综合ACMG批准的基因和ICD代码，用于转化研究和精确医学。
DOI：
10.1093/database/baad033
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发表时间：
2023-05-17
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
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作者：
及时了解复杂疾病的生物学秘密，最终会通过降低死亡率的高风险，并通过个性化诊断和治疗方法来改善生活质量，并且由于测序技术的进步和成本的进步，基因组学数据以无与伦比的速度和级别的培训为促进了100亿个基因组。 2022。通过提取，分析和解释隐藏的信息，可以扩大生物学发现和见解的范围，但是，当前的挑战和尚未解决的挑战包括他们的疾病中的疾病，包括疾病的定义。已经产生了几个生物学数据库的疾病（ICD）代码，包括有关人类基因和相关疾病的信息。基因 - 疾病 - 代码数据库，可以通过在线，跨平台和用户友好的应用程序访问，即Promis-App-Suite-Suite-Suite-Gene-disease-cope。基因 - 蛋白酶 - 代码组合。
数据库URL https://promis.rutgers.edu/pas/
A timely understanding of the biological secrets of complex diseases will ultimately benefit millions of individuals by reducing the high risks for mortality and improving the quality of life with personalized diagnoses and treatments. Due to the advancements in sequencing technologies and reduced cost, genomics data are developing at an unmatched pace and levels to foster translational research and precision medicine. Over 10 million genomics datasets have been produced and publicly shared in 2022. Diverse and high-volume genomics and clinical data have the potential to broaden the scope of biological discoveries and insights by extracting, analyzing and interpreting the hidden information. However, the current and still unresolved challenges include the integration of genomic profiles of the patients with their medical records. The definition of disease in genomics medicine is simplified, whereas in the clinical world, diseases are classified, identified and adopted with their International Classification of Diseases (ICD) codes, which are maintained by the World Health Organization. Several biological databases have been produced, which include information about human genes and related diseases. However, still, there is no database that exists, which can precisely link clinical codes with relevant genes and variants to support genomic and clinical data integration for clinical and translational medicine. In this project, we focused on the development of an annotated gene–disease–code database, which is accessible through an online, cross-platform and user-friendly application, i.e. PROMIS-APP-SUITE-Gene-Disease-Code. However, our scope is limited to the integration of ICD-9 and ICD-10 codes with the list of genes approved by the American College of Medical Genetics and Genomics. The results include over 17 000 diseases and 4000 ICD codes, and over 11 000 gene–disease–code combinations. Database URL https://promis.rutgers.edu/pas/
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影响因子：
5.5
作者：
Khoury MJ;Iademarco MF;Riley WT
通讯作者：
Riley WT
影响因子：
2.1
作者：
Ahmed, Zeeshan;Kim, Minjung;Liang, Bruce T.
通讯作者：
Liang, Bruce T.
影响因子：
8
作者：
Helms, Adam S.;Tang, Vi T.;Day, Sharlene M.
通讯作者：
Day, Sharlene M.
影响因子：
4.5
作者：
Faulkner, Eric;Holtorf, Anke-Peggy;Payne, Katherine
通讯作者：
Payne, Katherine
DOI：
10.1007/978-1-4939-7717-8_6
发表时间：
2018-01-01
期刊：
COMPUTATIONAL SYSTEMS BIOLOGY: METHODS AND PROTOCOLS
影响因子：
--
作者：
Chang, Michelle;He, Lin;Cai, Lei
通讯作者：
Cai, Lei