This was an awesome session. As @MaxMuenke said, "For optimal patient care you need a diagnosis." Makes sense! Studies show that using genome/exome sequencing leads to higher diagnostic rates: https://t.co/4XZZwLxIXV https://t.co/1dGSMY1pAX
https://t.co/v9p3tcvK6k 低血圧やてんかん、先天奇形などを理由にICUにいる生後6ヶ月未満の赤ちゃんに対して、いきなりエクソーム解析を行って結果を臨床に返してみたという研究 いわゆる高い確率で診断できる従来の分子診断検査と比較して、より速くより正確に結果を返せた…
RT @PubSnips: #Genetic diagnosis reached in 58% of exome sequenced #NICU cases with pre-selected phenotypes of: #hypotonia, #seizures, comp…