Complete genomic profiles of 1,496 Taiwanese reveal curatedmedical insights
Dung-Chi Wu et.al
③日本人
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome
であり、既にメモ済み2023/10/26。この論文と同じく、記憶では非同義変異比率は、個体レベル＝singletonやＭＡＦ5％以下で、60％を超えてはいない
④韓国人ども＝ＤＮＡモンスター！まさしく怪物ども！
A database of 5,305 healthy Korean individuals reveals genetic and clinicalimplications for an East Asian population
であり、既にメモ済みで下記は付属資料から。個体レベル＝singletonで2倍以上ある。まさしくバケモノである
⑤人類全体に関しては、1000ゲノムプロジェクトの結果発表論文。
既にメモ済み
A global reference for human genetic variation
Abstract
Taiwan Biobank (TWB) project has built a nationwide database to facilitate the basic and clinical collaboration within the island and internationally, which is one of the valuable public datasets of the East Asian population. This study provided comprehensive genomic medicine findings from 1,496 WGS data from TWB.
We reanalyzed 1,496 Illumina-based whole genome sequences (WGS) of Taiwanese participants with at least 30X depth of coverage
【サンプル数、分析深度とも充分である】
Background
In Asia, a genetic reference panel based on 3,552 individuals of the Japanese (JPN) population was published in 2019 [2] [3].
Another study based on 4,810 Singaporeans (SGN) was published in 2019 by the SG10K project [4].
Methods
All 1,496 Taiwanese WGS data were collected and de-identified at Taiwan Biobank (TWB). WGS were conducted separately in three batches (n = 496, 497, and 503, respectively) with high-depth mapped reads. The samples were sequenced by Illumina HiSeq 2500, 4000, and Novaseq system. Sequencing of DNA extracted from each blood sample generated about 90 GB of data with an average coverage of 30x
Results
The status of carrier variants in Taiwan, Singapore, and Japan To address the uniqueness of Taiwanese, we compared the MAF of 1,136 carrier variants in two different East Asian populations, e.g., Japanese and Singaporean. There were 279 common carrier variants between Japanese and Taiwanese and 611 common carrier variants between Singaporean and Taiwanese (Fig. 3).
Figure 2.
Annotated functional effect and occurrence of all passed variants. The spectrum between the alternative allele counts and the number of variants in different categories. The variants were categorized based on the ANNOVAR ExonicFunc.RefGene annotation. LOF: loss of function, including frameshift_deletion, frameshift_insertion, stopgain, and stoploss. non-frameshift: including non-frameshift_deletion and non-frameshift_insertion. nonsynonymous: non-synonymous_SNV. synonymous: synonymous_SNV.
【やはり、ゲノム全体で非同義変異比率は、ＭＡＦで50％を少し超える程度に過ぎない。】
Table 1. Variant statistics of the 1,496 WGS from Taiwan Biobank
【遺伝子領域で非同義変異もやはり50％を少し超える程度に過ぎない】
Dung-Chi Wu et.al
台湾人（中国人との混血）、中国人及び他のアジア人、日本人、韓国人ども この4集団について、サンプル数の多い全ゲノムシーケンス論文
①台湾人については、この論文
②中国人及び他のアジア人
Large-Scale Whole-Genome Sequencingof Three Diverse Asian Populations in Singapore
については2022/03/13に既にメモ済み。この論文と同じく、記憶では非同義変異比率は、個体レベル＝singletonやＭＡＦ5％以下で、60％を超えてはいない
①台湾人については、この論文
②中国人及び他のアジア人
Large-Scale Whole-Genome Sequencingof Three Diverse Asian Populations in Singapore
については2022/03/13に既にメモ済み。この論文と同じく、記憶では非同義変異比率は、個体レベル＝singletonやＭＡＦ5％以下で、60％を超えてはいない
③日本人
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome
であり、既にメモ済み2023/10/26。この論文と同じく、記憶では非同義変異比率は、個体レベル＝singletonやＭＡＦ5％以下で、60％を超えてはいない
④韓国人ども＝ＤＮＡモンスター！まさしく怪物ども！
A database of 5,305 healthy Korean individuals reveals genetic and clinicalimplications for an East Asian population
であり、既にメモ済みで下記は付属資料から。個体レベル＝singletonで2倍以上ある。まさしくバケモノである
⑤人類全体に関しては、1000ゲノムプロジェクトの結果発表論文。
既にメモ済み
A global reference for human genetic variation
Abstract
Taiwan Biobank (TWB) project has built a nationwide database to facilitate the basic and clinical collaboration within the island and internationally, which is one of the valuable public datasets of the East Asian population. This study provided comprehensive genomic medicine findings from 1,496 WGS data from TWB.
We reanalyzed 1,496 Illumina-based whole genome sequences (WGS) of Taiwanese participants with at least 30X depth of coverage
【サンプル数、分析深度とも充分である】
Background
In Asia, a genetic reference panel based on 3,552 individuals of the Japanese (JPN) population was published in 2019 [2] [3].
Another study based on 4,810 Singaporeans (SGN) was published in 2019 by the SG10K project [4].
Methods
All 1,496 Taiwanese WGS data were collected and de-identified at Taiwan Biobank (TWB). WGS were conducted separately in three batches (n = 496, 497, and 503, respectively) with high-depth mapped reads. The samples were sequenced by Illumina HiSeq 2500, 4000, and Novaseq system. Sequencing of DNA extracted from each blood sample generated about 90 GB of data with an average coverage of 30x
Results
The status of carrier variants in Taiwan, Singapore, and Japan To address the uniqueness of Taiwanese, we compared the MAF of 1,136 carrier variants in two different East Asian populations, e.g., Japanese and Singaporean. There were 279 common carrier variants between Japanese and Taiwanese and 611 common carrier variants between Singaporean and Taiwanese (Fig. 3).
Figure 2.
Annotated functional effect and occurrence of all passed variants. The spectrum between the alternative allele counts and the number of variants in different categories. The variants were categorized based on the ANNOVAR ExonicFunc.RefGene annotation. LOF: loss of function, including frameshift_deletion, frameshift_insertion, stopgain, and stoploss. non-frameshift: including non-frameshift_deletion and non-frameshift_insertion. nonsynonymous: non-synonymous_SNV. synonymous: synonymous_SNV.
【やはり、ゲノム全体で非同義変異比率は、ＭＡＦで50％を少し超える程度に過ぎない。】
Table 1. Variant statistics of the 1,496 WGS from Taiwan Biobank
【遺伝子領域で非同義変異もやはり50％を少し超える程度に過ぎない】
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