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Validated, Unvalidated, and Novel SNPs

A total of 2,474,648 SNPs are found from the donor's genome as defined by Maq X  and additional filteration ( Table X), which criteria were …

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Genotypes and Phenotypes

HGMD OMIM Associated studies results

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Genetic Variations

SNPs Validated, Unvalidated, and Novel SNPs Individual Genome comparison Share and non-share SNPs Non-synonymous SNPs Comparison of Genome Sequencing …

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Alignment Results

Number of mapped reads: 543,920,665 Mapped bases: 20,668,985,270bp (20.7 Giga base) Mapping coverage Coverage depth: 6.66 X Reference genome coverage:…

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Data Production

Number of reads : 638,887,298 Total bases: 543,920,665 bp Genomics coverage Coverage depth: 7.8 X Reference genome coverage: 6.66 X Comparison nucleot…

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Genetic Background

G-banded Karyotype Phylogeny Analysis Haplotype Analysis Donor pedigree

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Results

MtDNA heteroplasmy

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뉴스 링크 081209

http://www.kmatimes.com/news/articleView.html?idxno=51262 "가천의대 유전체 서열분석 최초 표현 부적절" http://www.mydaily.co.kr/news/read.html?newsid=200812100…

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PGP sequencing coverage

1000$ genome - Harvard professor and genetics researcher George Church - also principal investigator for the Personal Genome Project (PGP) - stated at…

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PGP company sequencing coverage

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