Name
Title | ||
|---|---|---|
A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data. |
Abstract | ||
|---|---|---|
Homozygosity mapping is a powerful procedure that is capable of detecting recessive disease-causing genes in a few patients from families with a history of inbreeding. We report here a homozygosity mapping algorithm for high-density single nucleotide polymorphism arrays that is able to (i) correct genotyping errors, (ii) search for autozygous segments genome-wide through regions with runs of homozygous SNPs, (iii) check the validity of the inbreeding history, and (iv) calculate the probability of the disease-causing gene being located in the regions identified. The genotyping error correction restored an average of 94.2% of the total length of all regions with run of homozygous SNPs, and 99.9% of the total length of them that were longer than 2 cM. At the end of the analysis, we would know the probability that regions identified contain a disease-causing gene, and we would be able to determine how much effort should be devoted to scrutinizing the regions. We confirmed the power of this algorithm using 6 patients with Siiyama-type α1-antitrypsin deficiency, a rare autosomal recessive disease in Japan. Our procedure will accelerate the identification of disease-causing genes using high-density SNP array data. |
Year | DOI | Venue |
|---|---|---|
2010 | 10.1186/1471-2105-11-S7-S5 | BMC Bioinformatics |
Keywords | Field | DocType |
error correction,genomics,autosomal recessive,genome,bioinformatics,algorithms,single nucleotide polymorphism,microarrays,genotype | Genotype,Genotyping,Biology,SNP array,Inbreeding,Algorithm,Genomics,Single-nucleotide polymorphism,Bioinformatics,Consanguinity,Genetics,Disease gene identification | Journal |
Volume | Issue | ISSN |
11 Suppl 7 | Suppl 7 | 1471-2105 |
Citations | PageRank | References |
19 | 0.50 | 1 |
Authors | ||
11 | ||
Name | Order | Citations | PageRank |
|---|---|---|---|
| Huqun | 1 | 19 | 0.50 |
| Shun-ichiro Fukuyama | 2 | 19 | 0.50 |
| Hiroyuki Morino | 3 | 29 | 2.32 |
| Hiroshi Miyazawa | 4 | 19 | 0.50 |
| Tomoaki Tanaka | 5 | 20 | 1.86 |
| Tomoko Suzuki | 6 | 19 | 0.50 |
| Masakazu Kohda | 7 | 19 | 0.50 |
| Hideshi Kawakami | 8 | 19 | 0.50 |
| Yasushi Okazaki | 9 | 63 | 5.74 |
| Kuniaki Seyama | 10 | 19 | 0.50 |
| Koichi Hagiwara | 11 | 25 | 2.05 |