{'fraction_non_alphanumeric': 0.019388516032811335, 'fraction_numerical': 0.014168530947054437, 'mean_word_length': 5.578431372549019, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 1, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 1, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Japanese pathogenic variant database: DPV

Databases of pathogenic variants form the basis for clinical genomic diagnosis using next-generation sequencers. ClinVar and the Human Gene Mutation Database (HGMD) are two major databases for pathogenic variants. However, ethnic diversity in the distributions of pathogenic variants in these databases has been observed; thus, geographic region-specific variant databases are required. We established a Japanese pathogenic variant database in 2016 and began registering pathogenic variants from published articles written by Japanese researchers. The criteria for registration are as follows: 1) the variant has been validated using Sanger sequencing, 2) the minor allele frequency of the variant is lower than 0.03 in the normal Japanese population, and 3) the clinical features of the patient have been critically evaluated by multiple clinicians and geneticists. All registered variants can be downloaded as an aggregated single VCF file to use in laboratories. We are presently curating variants from more than 2000 articles and estimate the registration of >10,000 pathogenic variants derived from the Japanese population. Although the number of registered variants remains relatively small, the clinical genetics community in Japan has begun to work on this initiative in a concerted manner.