生物谷報道：關(guān)于人類遺傳變異的大多數(shù)研究都集中在特定基因中單鏈核苷的差異上,。但在更高的一個層次上,，還存在結(jié)構(gòu)差異,，如插入,、刪除和倒轉(zhuǎn)等,，大小一般在幾千個堿基對到數(shù)百個堿基對之間，這為遺傳變異增添了另一個維度,。在“國家人類基因組研究所”（NHGRI）主持下的一個新的研究項目,，旨在積累一個關(guān)于人類基因組內(nèi)結(jié)構(gòu)變異的參照數(shù)據(jù)集,，這個數(shù)據(jù)集能夠為我們描繪出關(guān)于在表現(xiàn)型上正常的個體中所存在的DNA序列層次上的差異的一個全景圖,。該數(shù)據(jù)集也將成為在個別基因組層次上進(jìn)行疾病研究的一條捷徑。在本期Nature上,，該項目的NHGRI工作組的成員詳細(xì)介紹了這個項目的目的和方法,。
FIGURE 1. Paired-end sequence approach.
Genomic libraries are constructed from fragmented DNA and subcloned into circular vectors such as BACs or fosmids. The ends of these fragment inserts are directly sequenced from universal vector primers near the subcloning site (arrows) and are termed end-sequence pairs or paired-end sequences. End-sequence pairs are mapped to their best location in the human reference genome sequence assembly. End-sequence pairs that are discordant in terms of length (> 3 s.d. from the mean insert length) and/or orientation when mapped against the reference genome assembly may be indicative of deletions, insertions or inversion, as indicated (red, blue and green, respectively). End-sequence pairs consistent in terms of length and orientation are shown as grey.
原文出處：
Nature Volume 447 Number 7141
Completing the map of human genetic variation p161
A plan to identify and integrate normal structural variation into the human genome sequence.
The Human Genome Structural Variation Working Group
doi:10.1038/447161a
Full Text | PDF (333K)
See also: Editor's summary
