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Updated: Dec 25, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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929の異なるゲノムからヒトの遺伝子変異と人口の歴史の洞察

Anders Bergström1,2, Shane A McCarthy3,4, Ruoyun Hui4,5

  • 1Wellcome Sanger Institute, Hinxton CB10 1SA, UK. ab34@sanger.ac.uk cts@sanger.ac.uk.

Science (New York, N.Y.)
|March 21, 2020
PubMed
まとめ

この研究は 54の集団から 929のヒトゲノム配列を提示し,アフリカ,オセアニア,アメリカにおける新しい遺伝的多様性を明らかにしています. アフリカの人口の深い分裂と 現代のヒトの 古人の混ざり合いを強調しています

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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