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Genetic variation and the de novo assembly of human genomes

Nature Reviews. Genetics

Oct 8, 2015

Mark J P ChaissonEvan E Eichler

Abstract

The discovery of genetic variation and the assembly of genome sequences are both inextricably linked to advances in DNA-sequencing technology. Short-read massively parallel sequencing has revolutionized our ability to discover genetic variation but is insufficient to generate high-quali...read more

Mentioned in this Paper

Human Genetics
Expression Technologies for DNA and RNA
Sequencing
Genetic Predisposition to Disease
Genome Assembly Sequence
Variation (Genetics)
High-Throughput Nucleotide Sequencing
Massively-Parallel Sequencing
Structure
Genome Mapping
112
1
12
754
1
Paper Details
References
  • References102
  • Citations92
12345...

Genetic variation and the de novo assembly of human genomes

Nature Reviews. Genetics

Oct 8, 2015

Mark J P ChaissonEvan E Eichler

PMID: 26442640

DOI: 10.1038/nrg3933

Abstract

The discovery of genetic variation and the assembly of genome sequences are both inextricably linked to advances in DNA-sequencing technology. Short-read massively parallel sequencing has revolutionized our ability to discover genetic variation but is insufficient to generate high-quali...read more

Mentioned in this Paper

Human Genetics
Expression Technologies for DNA and RNA
Sequencing
Genetic Predisposition to Disease
Genome Assembly Sequence
Variation (Genetics)
High-Throughput Nucleotide Sequencing
Massively-Parallel Sequencing
Structure
Genome Mapping
112
1
12
754
1
Paper Details
References
  • References102
  • Citations92
12345...
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