The complete genome of an individual by massively parallel DNA sequencing

Genome sequencing in microfabricated high-density picolitre reactors

2005 • 7,594 citations

Base-Calling of Automated Sequencer Traces UsingPhred. I. Accuracy Assessment

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Base-Calling of Automated Sequencer Traces Using Phred. II. Error Probabilities

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Finishing the euchromatic sequence of the human genome

2004 • 4,741 citations

Global variation in copy number in the human genome

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Initial sequence of the chimpanzee genome and comparison with the human genome

2005 • 2,398 citations

Human non-synonymous SNPs: server and survey

2002 • 2,270 citations

The Diploid Genome Sequence of an Individual Human

2007 • 1,795 citations

Human Gene Mutation Database (HGMD^®): 2003 update

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Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

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Human Genetics. Problems and Approaches.

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Genomic mapping by fingerprinting random clones: A mathematical analysis

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Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

2005 • 572 citations

Comparative genome sequencing ofDrosophila pseudoobscura: Chromosomal, gene, andcis-element evolution

2005 • 502 citations

Human Genetics

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Human Diallelic Insertion/Deletion Polymorphisms

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The costs of human inbreeding and their implications for variations at the DNA level

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Research ethics and the challenge of whole-genome sequencing

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Population Stratification of a Common APOBEC Gene Deletion Polymorphism

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The Atlas Genome Assembly System

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Structural Variation in the Human Genome

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Natural Genetic Variation Caused by Transposable Elements in Humans

2004 • 160 citations

How many lethal alleles?

2003 • 14 citations