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Transcript
Proprietary Databases
®
我們不但取得當今全世界最大藥物基因體學資料庫 PharmGKB 的獨家共享授權,亦取得史丹福大學疾病變異資料庫獨家共
享授權,目前 Personalis 疾病變異資料庫是全世界最大最完整的資料庫。
Personalis 疾病變異資料庫具有以下優點:

Containing over 600,000 variant-to-disease relationships

Highly reliable biomedical interpretation of not only exonic variants, but also those located in intronic and intergenic regions
Personalis 藥物基因體學資料庫具有以下優點:

Database is built on PharmGKB®, the world’s leading pharmacogenomics database

Containing genetic variants to drug toxicity, dosing, and efficacy information
Personalis Regulatory Regions 資料庫具有以下優點:

Containing several hundred thousand putative transcription factor binding sites/regulatory regions.

These regulatory annotations enable us to interpret intergenic and other non-coding variants that may have a significant impact on gene
expression and function.
Integrates, Updates, Maintains Over 40 Public & Commercial Databases
探索生物科技公司
Tel: 02-86918491
Fax: 02-86918479
www.gendiscovery.com.tw
Proprietary Databases for Analytics
Personalis Disease Variant Database
The Personalis Disease Variant Database is the most comprehensive, detailed, high-quality manually-curated variant to common disease,
Mendelian disease, and phenotype database of its kind containing over 600,000 variant-to-disease relationships. This database enables
highly reliable biomedical interpretation of not only exonic variants, but also those located in intronic and intergenic regions. Furthermore,
the database is ethnicity specific when that information is available.
Personalis Pharmacogenomics Database
The Personalis Pharmacogenomic Database is built on PharmGKB®, the world’s leading pharmacogenomics database which has been
exclusively licensed by Personalis. PharmGKB® content includes information linking genetic variants to drug toxicity, dosing, and efficacy.
PharmGKB® content has been manually-curated and extensively peer-reviewed over a 12-year period. Personalis has used this information
to refine its sequencing and interpretation technologies to measure these genetic variations accurately.
Personalis Regulatory Regions Database
The Personalis Regulatory Regions Database contains several hundred thousand putative transcription factor binding sites/regulatory
regions. These regulatory annotations enable us to interpret intergenic and other non-coding variants that may have a significant impact
on gene expression and function.
Public Databases for Annotation
Personalis’ annotation engine draws on data from a broad range of public and commercial databases to complement our proprietary
databases. The Personalis annotation engine updates, integrates, and version controls a broad variety of public and proprietary databases
to provide rich variant and gene annotation. Annotations include ethnically specific population frequencies, non-coding RNA (ncRNA),
regulatory elements, problematic marker regions, mutational impact, conservation, known structural variation, variant to disease
relationships, structural variants associated with cancer, networks, interactions, pathways, biological function, drug targets, and genetic
tests.
探索生物科技公司
Tel: 02-86918491
Fax: 02-86918479
www.gendiscovery.com.tw