Publications by authors named "O Biro"

Background: Phenome-wide association studies (PheWASs) have been conducted on Asian populations, including Koreans, but many were based on chip or exome genotyping data. Such studies have limitations regarding whole genome-wide association analysis, making it crucial to have genome-to-phenome association information with the largest possible whole genome and matched phenome data to conduct further population-genome studies and develop health care services based on population genomics.

Results: Here, we present 4,157 whole genome sequences (Korea4K) coupled with 107 health check-up parameters as the largest genomic resource of the Korean Genome Project.

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Aortic dissection is caused by a tear on the aortic wall that allows blood to flow through the wall layers. Usually, this tear involves the intimal and partly the medial layer of the aortic wall. As a result, a new false lumen develops besides the original aorta, denoted then as the true lumen.

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Article Synopsis
  • - Early detection of cancer is crucial, and plasma cell-free DNA (cfDNA) can reveal tumor DNA signatures for diagnosing early-stage tumors.
  • - The novel TOF (Tumor Originated Fragment) method quantifies tumor fragments by analyzing cfDNA methylation patterns and specific fragmentomic features to improve lung cancer diagnosis.
  • - In a study with 298 plasma samples, the TOF method successfully distinguished lung cancer patients from healthy individuals, achieving an impressive accuracy rate with a score of 0.98 out of 1.0.
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Ovarian cancer is the deadliest gynecological cancer. 70% of the cases are diagnosed at late stages with already developed metastases due to the absence of easily noticeable symptoms. Early-stage ovarian cancer has a good prognosis with a 5-year survival rate reaching 95%, hence the identification of effective biomarkers for early diagnosis is important.

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