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2016年人类长寿公司的万人全基因组数据

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发表于 2017-1-31 10:50:46 | 显示全部楼层 |阅读模式
公司主页是:Human Longevity, Inc.2016年在PNAS发文Deep sequencing of 10,000 human genomes:http://www.pnas.org/content/113/42/11901.full

We report on the sequencing of 10,545 human genomes at 30×–40× coverage with an emphasis on quality metrics and novel variant and sequence discovery. We find that 84% of an individual human genome can be sequenced confidently.
This high-confidence region includes 91.5% of exon sequence and 95.2% of known pathogenic variant positions. We present the distribution of over 150 million single-nucleotide variants in the coding and noncoding genome.
Each newly sequenced genome contributes an average of 8,579 novel variants. In addition, each genome carries on average 0.7 Mb of sequence that is not found in the main build of the hg38 reference genome.
The density of this catalog of variation allowed us to construct high-resolution profiles that define genomic sites that are highly intolerant of genetic variation.
These results indicate that the data generated by deep genome sequencing is of the quality necessary for clinical use.


数据不能下载,不管是原始的fastq文件还是处理之后的vcf记录的变异文件。
注意,他们开始用hg38了!

  • The authors are employees of Human Longevity, Inc.
  • Data deposition: Data access is granted through the Human Longevity, Inc. gene browser (HLI-OpenSearch.com). In addition, 325 NA12878 reference genome sequences have been donated to PrecisionFDA (https://precision.fda.gov).
  • 但是他们提供一个查询接口,而且还捐献了部分数据






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