This research article discusses the use of next-generation sequencing (NGS) for genetic risk assessment in a cohort of 81 volunteers. The study involved whole exome sequencing (WES) and the integration of personal medical histories and three-generation pedigrees. The findings included the identification of recessive, dominant, and X-linked recessive risk alleles, and the linking of personal disease histories with causative disease genes in 18 volunteers. The study highlights the potential of NGS as a diagnostic tool for genetic disease risk, while also addressing the limitations and barriers to its adoption in medical practice.
documents/EFTA01140242.pdf
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