Biomedical research yields vast information, much of which is only accessible through the
literature. Consequently, literature search is crucial for healthcare and biomedicine. Recent …

Clinical interpretation of DNA sequence variants is a critical step in reporting clinical genetic
testing results. Application of next‐generation sequencing technology in molecular genetic …

Motivation To obtain key information for personalized medicine and cancer research,
clinicians and researchers in the biomedical field are in great need of searching genomic …

With the proliferation of genomic sequence data for biomedical research, the exploration of
human genetic information by domain experts requires a comprehensive interrogation of …

Recessive variants in GJB2 are the most common genetic cause of sensorineural hearing
impairment. However, in many patients, only one variant in the GJB2 coding region is …

Motivation Identification and interpretation of clinically actionable variants is a critical
bottleneck. Searching for evidence in the literature is mandatory according to …

Effective research and clinical application in audiology and hearing loss (HL) often require
the integration of diverse data. However, the absence of a dedicated database impeded …

Understanding the genetic basis of human complex diseases is increasingly important in the
development of precision medicine. Over the last decade, genome-wide association studies …