The first Irish genome and ways of improving sequence accuracy

Young Seok Ju; Yun Joo Yoo; Jong-Il Kim; Jeong-Sun Seo

doi:10.1186/gb-2010-11-9-132

The first Irish genome and ways of improving sequence accuracy

Genome Biol. 2010;11(9):132. doi: 10.1186/gb-2010-11-9-132. Epub 2010 Sep 7.

Authors

Young Seok Ju¹, Yun Joo Yoo, Jong-Il Kim, Jeong-Sun Seo

Affiliation

¹ Genomic Medicine Institute, Medical Research Center, Seoul National University, 28 Yongon-Dong, Jongno-Gu, Seoul 110-799, Korea.

Abstract

Whole-genome sequencing of an Irish person reveals hundreds of thousands of novel genomic variants. Imputation using previous known information improves the accuracy of low-read-depth sequencing.

Publication types

Comment

MeSH terms

Base Sequence
Chromosome Mapping
Genome, Human*
Genomics
Hepatocyte Growth Factor / genetics
Humans
Ireland
Mutation
Polymorphism, Single Nucleotide*
Proto-Oncogene Proteins / genetics
Sequence Analysis, DNA*

Substances

Proto-Oncogene Proteins
macrophage stimulating protein
Hepatocyte Growth Factor