科學家發表第一個完整人類基因組
【摘要2022.4.18.一.自由】 ◎陳成良
Scientists on
Thursday published the first complete human genome, filling in gaps remaining
after previous efforts while offering new promise in the search for clues
regarding disease-causing mutations and genetic variation among the world’s 7.9
billion people.
科學家週四發表第一個完整人類基因組，填補了先前努力後仍存在的空白，同時為在全球79億人中尋找有關致病突變和遺傳變異的線索，帶來新希望。
Researchers in
2003 unveiled what was then billed as the complete sequence of the human
genome. But about 8% of it had not been fully deciphered, mainly because it
consisted of highly repetitive chunks of DNA that were difficult to mesh with
the rest.
研究人員於2003年公布當時被稱為人類基因組的完整序列，但其中有大約8％沒有完全破譯，主要是因為這部分是由高度重覆的DNA片段組成，難以與其他部分相嚙合。
A consortium of
scientists resolved that in research published in the journal Science. The work
was initially made public last year before its formal peer review process.
一個科學家團隊解決了上述問題，並將成果發表在《科學》期刊。這項研究在經過正式同儕審查程序前，最初曾在去年公布。
The consortium’s
full version is composed of 3.055 billion base pairs, the units from which
chromosomes and our genes are built, and 19,969 genes that encode proteins.
這個團隊提供的完整版本，是由30億5500萬個鹼基對（構成染色體和基因的單位）和1萬9969個蛋白質編碼基因所組成。
新聞辭典
fill in：片語，填補、補充。例句：I’ll
fill in the other details for you.（我將為你補充其他細節。）
repetitive：形容詞，重複的。例句：My
job is boring and repetitive. （我的工作既無趣，重複性又高。）
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