啐啄同時

若手研究者を応援するオヤジ研究者の独白的な日記です。

トリオシーケンシング

 父母子の全ゲノム解析による各ゲノムの一意的決定は、ちょうど連立方程式で複数の解を同時に出すようなもので、親子3人の完全ゲノムの比較解析から、少なくとも子供の全ゲノムのハプロタイプ(haplotype)を一意的にかつ同時に決めるものです。
 これは、2007年にNature Genetics誌のオンライン版で、50人の研究者を選んでそれぞれに「Question of the Year」と題して、1000ドルゲノムが可能になったら何をしたいかという質問が出され、教授はそのうちの一人として、この「トリオシーケンシングによる全ゲノム解析に基づいた新規突然変異の検出とその速度の測定」を提案し、突然変異の全ゲノムにわたる分布(Genomic profile of newly arisen mutations)の重要さを指摘しました。

(引用http://www.nature.com/ng/qoty/index.html)
Question of the Year
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The sequencing of the equivalent of an entire human genome for $1,000 has been announced as a goal for the genetics community, and new technologies suggest that reaching this goal is a matter of when, rather than if. What then? In celebration of its upcoming 15th anniversary, Nature Genetics is asking prominent geneticists to weigh in on this question: what would you do if this sequencing capacity were available immediately? This new Nature Genetics 'Question of the Year' website, sponsored by Applied Biosystems, will reveal their answers. The website will be updated monthly, so check back regularly to get a glimpse of the future of genetics.
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(引用: http://www.nature.com/ng/qoty/index.html#gojobori)
"To understand the mutation spectrum over the entire genome is one of the essential tasks for geneticists, because newly arisen mutations (including nucleotide substitutions and other genomic structural changes) are the only source of genetic diversity. The current advances in genome sequencing technology enable us to sequence the complete genomes of a given child and its biological parent, which should reveal the mutation spectrum for nucleotide substitution, recombination, duplication, inversion, transposition and others. For humans, sequencing the genomes of a son and his biological father can easily reveal how newly arisen mutations are distributed over the Y chromosome. Moreover, many such parent-child pairs may be good targets for genome sequencing in order to learn the mutation spectrum over the autosomes and X chromosome. Likewise, sequencing the genome of sperm produced from a particular male may uncover the mutation spectrum due to spermatogenesis. (In the case of humans, of course, complete genome sequence information should be handled with maximum care for privacy and ethical considerations.) This is easily extended to other organisms such as mice and many egg-laying fish to sequence the genome of eggs formed by a given female, which may clarify the mutation spectrum due to oogenesis. Thus, I would propose the initiation of parent-child pair genome sequencing. (posted 1 June 2007)"