publication . Article . 2014

De novo mutations discovered in 8 Mexican American families through whole genome sequencing

Wang, Heming; Zhu, Xiaofeng;
Open Access English
  • Published: 01 Jun 2014 Journal: BMC Proceedings, volume 8, issue Suppl 1, pages S24-S24 (eissn: 1753-6561, Copyright policy)
  • Publisher: BioMed Central
Abstract
De novo mutations enrich the sequence diversity and carry the clue of evolutional selection. Recent studies suggest the de novo mutations could be one of the risk factors for complex diseases. We conducted a survey of de novo mutations using the whole genome sequence data but only available on the odd autosomes of Mexican American families provided by Genetic Analysis Workshop 18. We extracted 8 three-generation families who have sequencing data available from 20 large pedigrees. By comparing the known single nucleotide variants (SNVs) in dbSNP129 and the de novo variants transmitted in the Mexican American families, we were able to estimate a de novo mutation r...
Subjects
free text keywords: Proceedings, General Biochemistry, Genetics and Molecular Biology, General Medicine, Genetic analysis, Genetics, Whole genome sequencing, Genotyping, Autosome, Haploid genome, Pedigree chart, Bioinformatics, Mutation rate, De novo mutations, Biology
Funded by
NIH| Discovery of Functional Variants in Type 2 Diabetes Genes in Mexican Americans
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U01DK085524-05
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| Identifying T2D Variants by DNA Sequencing in Multiethnic Samples
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 1U01DK085584-01
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| Identification and Replication of Type 2 Diabetes Genes in Mexican Americans
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U01DK085501-02
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| Multiethnic Study of Type 2 Diabetes Genes
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U01DK085526-05
  • Funding stream: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
,
NIH| Fine Mapping of Hypertension Genes Detected by Admixture Mapping in the FBPP
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01HL086718-05
  • Funding stream: NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
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