"Genetic association analysis of 77,539 genomes reveals rare disease etiologies"
Nature Medicine オンライン版 2023年3月16日 doi:10.1038/s41591-023-02211-z
新しい計算論的アプローチにより、原因不明の希少3疾患の遺伝的病因が明らかに
解説
論文情報
Daniel Greene, Genomics England Research Consortium, Daniela Pirri,
Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P. J. Giese,
Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys,
Bruce D. Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho,
Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah,
Claire L. S. Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki*, Pia Ostergaard,
Bart L. Loeys, Hiroko Morisaki, Zubair M. Ahmed*, Graeme M. Birdsey*, Kathleen Freson*,
Andrew Mumford* & Ernest Turro*
（*責任著者ならびに各疾患担当著者）
Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P. J. Giese,
Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys,
Bruce D. Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho,
Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah,
Claire L. S. Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki*, Pia Ostergaard,
Bart L. Loeys, Hiroko Morisaki, Zubair M. Ahmed*, Graeme M. Birdsey*, Kathleen Freson*,
Andrew Mumford* & Ernest Turro*
（*責任著者ならびに各疾患担当著者）
