Family first - Nature

When Bea Rienhoff was born nearly 10 years ago, her father Hugh and her doctors immediately noticed some worrying signs. Her long fingers and toes curled inwards. Her eyes were spaced just a bit wider than normal, and she was floppy — not like the clenched little bundles of energy her two brothers were at birth. In the joy of the moment, Rienhoff put these nagging concerns aside. But as Bea grew a

[blackshadow]

遺伝学では家系データが重要

[sayamatcher]

「塩基配列解読技術が進み、研究者の家族のゲノムが、病気の新たな手がかりにつながる例が増えている」

[invictus]

”He had purchased used laboratory equipment, set it up in his basement and prepared several of Bea’s genes for sequencing. That failed to provide an answer. So he reached out to colleagues at Illumina, a genome-sequencing company in San Diego, California..."