Name: 這個團隊為何要對 10 萬個亞洲人的基因組進行測序 (Why this team is trying to sequence 100,000 Asian genomes)
Uploaded: 2025-06-18T17:37:50.000Z
Duration: 5 min 55 s

情態副詞

Genomic studies have mostly focused on European ancestry and neglected ethnic minorities for decades, experts say.

專家說，幾十年來，基因組研究主要集中在歐洲血統上，而忽視了少數民族。

But now projects aimed at bridging the diversity gap are on the rise.

但現在，旨在縮小多樣性差距的項目正在增多。

基礎被動語態

The Genome Asia 100k project was set up in 2016 by company MedGenome and Singapore's Nanyang Technological University.

亞洲基因組 100k 項目於 2016 年由 MedGenome 公司和新加坡南洋理工大學共同設立。

Based at the University Centre for Life Science Engineering or CELCI, Genome Asia 100k aims to sequence a hundred thousand genomes to create a genetic representation of Asian human variation.

亞洲基因組 100k 項目以大學生命科學工程中心（CELCI）為基地，旨在對十萬個基因組進行測序，以建立亞洲人類變異的基因代表。

I caught up with the project's scientific director Stefan Schulster.

我採訪了該項目的科學主任斯特凡-舒爾斯特。

So step one is to understand the genetic makeup of Asians as a whole entity.

是以，第一步是瞭解亞洲人作為一個整體的基因構成。

But then the second one is to find out which of those genetic markers that we newly discover are actually ethical markers and are not disease markers as they have been described in the genomes of European descendants.

但第二個問題是，在我們新發現的這些遺傳標記中，哪些實際上是倫理標記，而不是歐洲後裔基因組中描述的疾病標記。

Can you give us a sense of the samples and the individual populations that you're targeting here?

您能給我們介紹一下您的目標樣本和目標人群嗎？

As in many instances we are standing on the shoulders of generation of scientists before us and many of them have been Japanese anthropologists that were traveling the world for decades and they have created a collection of samples.

在許多情況下，我們都是站在前輩科學家的肩膀上，他們中的許多人都是日本人類學家，幾十年來周遊世界，收集了大量樣本。

Eventually the keepers of the samples realized that the samples would degrade and then the decision was made on why not to convert those existing samples into digital information.

最終，樣本保存者意識到樣本會退化，於是決定不將現有樣本轉換成數字信息。

And is that a portion of the 100,000 samples?

這是 10 萬個樣本中的一部分嗎？

It was the building blocks that kicked off the project.

Thanks to the contributions from national collections, donors, clinicians and scientists the project has built on from those original samples.

多虧了各國收藏機構、捐贈者、臨床醫生和科學家的貢獻，該項目才得以在這些原始樣本的基礎上更上一層樓。

Both sampling and data analysis take place in the project's two labs at the University.

採樣和數據分析都在該項目在大學的兩個實驗室進行。

Here scientists are extracting DNA from human tissue and chemically preparing it.

在這裡，科學家們從人體組織中提取 DNA，並對其進行化學制備。

This process is called library construction and it's alongside use of robotics.

這一過程被稱為圖書館建設，同時也是機器人技術的應用。

Once the DNA is prepared it's taken to another lab where it's loaded into a sequencer that reads the data and translates it into digital information.

DNA 製備完成後會被送往另一個實驗室，在那裡被裝入測序儀，測序儀會讀取數據並將其轉化為數字信息。

Each single sequencing round takes around three days.

每一輪測序大約需要三天時間。

In a week the machine can produce around 80 human genomes.

一週內，這臺機器可以產生大約 80 個人類基因組。

Healy Kim is the project's lead researcher.

Healy Kim 是該項目的首席研究員。

So the first is the speed of the machine can sequence the DNA.

首先是機器對 DNA 進行測序的速度。

The second is the speed of the process, the big amount of the data at the same time in the huge computing resources.

其次是處理速度，在巨大的計算資源中同時處理大量數據。

Without the technology we cannot handle this big data.

沒有技術，我們就無法處理這些大數據。

The robotics and the automation absolutely crucial here.

機器人技術和自動化在這裡絕對至關重要。

Are you guys looking at leveraging AI in all of this?

你們是否考慮在所有這些工作中利用人工智能？

AI can help for the identification of the variation plus it also helps to annotate the function of those variations.

人工智能不僅能幫助識別變異，還能幫助註釋這些變異的功能。

Genome Asia 100k still has a way to go before reaching its goal.

亞洲基因組 100k 距離實現目標還有很長的路要走。

So far it's sequenced around 10,000 genomes from 25,000 samples spanning 450 Asian ethnicities.

到目前為止，它已經對來自 450 個亞洲人種的 25,000 個樣本中的約 10,000 個基因組進行了測序。

Can you give us some of the key insights that the project has already gained?

您能否向我們介紹一下該項目已經獲得的一些重要見解？

The first and most stunning lesson was that we never expected genetic diversity of Asians to be so deep and the second insight is that this is the most important time to collect, describe and work with indigenous groups and also make the world understand how important the contributions from these groups are that are really living at the brink of right now.

第一個也是最令人震驚的教訓是，我們從未想到亞洲人的基因多樣性會如此深厚，第二個啟示是，現在是收集、描述和與土著群體合作的最重要時刻，也是讓世界瞭解這些真正生活在邊緣的群體的貢獻有多麼重要的時刻。

It will help to separate disease alleles from ethnic alleles.

這有助於將疾病等位基因與種族等位基因區分開來。

A disease allele is a genetic variation that might contribute to a medical condition.

疾病等位基因是一種可能導致疾病的基因變異。

Related data can help scientists understand how susceptible a certain community could be to a specific disease.

相關數據可以幫助科學家瞭解某個社區對特定疾病的易感性。

The big advance that comes from what is called the next generation of data is that we have entered the area of personalized medicine.

新一代數據帶來的巨大進步是，我們已經進入了個性化醫療領域。

The idea is you would sequence the genome of a patient and you will be able to tailor made a treatment medication for that person.

我們的想法是對病人的基因組進行測序，然後為病人量身定製治療藥物。

We try to build on that concept and our key paradigm is how can precision medicine be precise if you don't precisely know who you are.

我們試圖在這一概念的基礎上更進一步，我們的關鍵範式是，如果你不能準確地知道自己是誰，精準醫療又如何能做到精準呢？

And in very simple terms what is the medical relevance here?

簡單地說，這與醫學有什麼關係？

When we develop pharmaceuticals it's in the analogy of you only produce one t-shirt it's white it's XL and everybody has to wear it and what we are trying to say is the pharmaceutical industry also needs to look at the other sizes and they need to make sure that the drugs that they develop are compatible and the factor of ethnicity is currently not represented in precision medicine.

當我們開發藥品時，就好比你只生產一件 T 恤，它是白色的，是加大碼的，每個人都必須穿它，而我們想說的是，製藥業也需要考慮其他尺寸，他們需要確保他們開發的藥品是兼容的，而目前精準醫療中還沒有體現種族因素。

Diversity in genomic research is crucial for ensuring medicine works for all.

基因組研究的多樣性對於確保醫學為所有人服務至關重要。

By expanding data sets we unlock the stories of the past and increase medical opportunities for future generations.

通過擴大數據集，我們可以揭開過去的故事，為子孫後代增加醫療機會。