PMC:6174355 / 3323-4302 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6174355","sourcedb":"PMC","sourceid":"6174355","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6174355","text":"Hearing loss is the most common sensory deficit in humans. It affects an estimated 5% of the world’s population (360 million individuals) and in developed countries is most frequently genetic, segregating in a Mendelian fashion in the case of non-syndromic hearing loss (NSHL) or as a complex genetic disease in the case of age-related hearing loss.7 Its clinical evaluation has been facilitated by the use of comprehensive genetic testing with massively parallel sequencing, which has evolved to become the most informative test in the diagnostic evaluation of the hearing-impaired person. A positive diagnosis is made in more than 40% of persons who undergo this type of testing, and to date more than 6,000 mutations in more than 150 genes have been causally implicated in deafness.8 As the number of genes implicated in NSHL has continued to increase, we sought to provide a freely and continually updated comprehensive database to inform variant classification for deafness.","tracks":[{"project":"2_test","denotations":[{"id":"30245029-15752533-2047642","span":{"begin":349,"end":350},"obj":"15752533"},{"id":"30245029-26969326-2047643","span":{"begin":785,"end":786},"obj":"26969326"}],"attributes":[{"subj":"30245029-15752533-2047642","pred":"source","obj":"2_test"},{"subj":"30245029-26969326-2047643","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#93ecb2","default":true}]}]}}