Literature DB >> 16397858

Getting more from digital SNP data.

Noureddine El Karoui1, Wei Zhou, Alice S Whittemore.   

Abstract

The digital SNP method has been proposed for identifying loss of heterozygosity (LOH) in tumour tissue and correlating it with patients' clinical characteristics. The method evaluates a tumour's allelic count at a single nucleotide polymorphism (SNP) for which the patient's normal tissue is heterozygous. The count is used to classify the tumour as positive or negative for LOH, using the sequential probability ratio test (SPRT). However, the SPRT was not developed for analysing digital SNP experiments. When applied to digital SNP data, the SPRT has several anomalies that can result in both loss of data and tumour misclassification. The anomalies are caused by discrepancies between the design of digital SNP experiments and the setting for which SPRT was developed. We propose an alternative classification scheme based on the false discovery rate, and show that it outperforms the SPRT when applied to Digital SNP data.

Entities:  

Mesh:

Substances:

Year:  2006        PMID: 16397858     DOI: 10.1002/sim.2379

Source DB:  PubMed          Journal:  Stat Med        ISSN: 0277-6715            Impact factor:   2.373


  4 in total

1.  Theoretical design and analysis of multivolume digital assays with wide dynamic range validated experimentally with microfluidic digital PCR.

Authors:  Jason E Kreutz; Todd Munson; Toan Huynh; Feng Shen; Wenbin Du; Rustem F Ismagilov
Journal:  Anal Chem       Date:  2011-10-07       Impact factor: 6.986

2.  Digital PCR for the molecular detection of fetal chromosomal aneuploidy.

Authors:  Y M Dennis Lo; Fiona M F Lun; K C Allen Chan; Nancy B Y Tsui; Ka C Chong; Tze K Lau; Tak Y Leung; Benny C Y Zee; Charles R Cantor; Rossa W K Chiu
Journal:  Proc Natl Acad Sci U S A       Date:  2007-07-30       Impact factor: 11.205

Review 3.  Current, Emerging, and Future Applications of Digital PCR in Non-Invasive Prenatal Diagnosis.

Authors:  Juliette Nectoux
Journal:  Mol Diagn Ther       Date:  2018-04       Impact factor: 4.074

4.  Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband.

Authors:  Haoxian Li; Bole Du; Fuman Jiang; Yulai Guo; Yang Wang; Chunsheng Zhang; Xiaojing Zeng; Yuhuan Xie; Shuming Ouyang; Yexing Xian; Min Chen; Weiqiang Liu; Xiaofang Sun
Journal:  Mol Genet Genomic Med       Date:  2019-09-30       Impact factor: 2.183

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.