{"id":2150,"date":"2026-02-25T21:17:23","date_gmt":"2026-02-25T21:17:23","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2150"},"modified":"2026-02-25T21:17:23","modified_gmt":"2026-02-25T21:17:23","slug":"evaluating-the-efficiency-of-nanopore-adaptive-sampling-sequencing-in-detecting-balanced-translocation-contributed-by-meng-gao","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/evaluating-the-efficiency-of-nanopore-adaptive-sampling-sequencing-in-detecting-balanced-translocation-contributed-by-meng-gao\/","title":{"rendered":"Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation (Contributed by Meng Gao)"},"content":{"rendered":"

Some people carry a \u201cbalanced translocation,\u201d a harmless-looking chromosome change that can greatly increase the risk of recurrent miscarriage or having affected children. Unfortunately, many of these changes are too small or too complex to be detected by routine genetic tests. In this study, we evaluated a targeted DNA sequencing approach called nanopore adaptive sampling sequencing, which focuses only on suspected chromosome regions instead of sequencing the entire genome. We found that this method could accurately identify all translocation breakpoints while reducing sequencing cost and data burden. Our results suggest that this approach could improve genetic diagnosis and reproductive decision-making for couples with repeated pregnancy loss or abnormal offspring. (https:\/\/jmg.bmj.com\/content\/early\/2026\/02\/25\/jmg-2025-111347<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Some people carry a \u201cbalanced translocation,\u201d a harmless-looking chromosome change that can greatly increase the risk of recurrent miscarriage or having affected children. Unfortunately, many of these changes are too small or too complex to be detected by routine genetic tests. In this study, we evaluated a targeted DNA sequencing approach called nanopore adaptive sampling […]<\/p>\n

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