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Using population admixture to help complete maps of the human genome
Giulio Genovese1, Robert E Handsaker, Heng Li
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Nature Genetics
|February 26, 2013
Summary
Researchers located millions of base pairs of missing human genome sequence, including protein-coding genes, using genome sequence variation. These sequences, often hidden in heterochromatin, provide new insights into genome biology and disease association.
Area of Science:
- Genomics
- Human Genetics
- Bioinformatics
Background:
- Millions of base pairs of euchromatic human genome sequence, including protein-coding genes, lack defined locations.
- Understanding the complete human genome is crucial for biological and medical research.
Purpose of the Study:
- To develop an approach for localizing unplaced human genome sequences.
- To identify the locations of missing euchromatic sequences and associated genes.
Main Methods:
- Utilizing patterns of genome sequence variation arising from population admixture.
- Mapping scaffolds of unplaced euchromatic sequence and identifying segmental duplications.
Main Results:
- Successfully mapped 70 scaffolds (4 million base pairs) of unplaced euchromatic sequence, including over a dozen protein-coding genes.
- Identified 8 new large interchromosomal segmental duplications.
- Found most unplaced sequences are located in heterochromatin, especially pericentromeric regions.
Conclusions:
- Many cryptic, pericentromeric genes are expressed and have remained intact over millions of years.
- Knowledge of these sequence locations can advance disease association studies and genome biology.
- This approach effectively localizes previously unplaced human genome segments.
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