Literature DB >> 12746396

Application of haplotype pair analysis for the identification of hemizygous loci.

B C Hendrickson1, D Pruss, E Lyon, T Scholl.   

Abstract

An expectation maximisation based prediction algorithm was created to identify unusual haplotypes in patient samples that may be caused by small intragenic deletions. In this approach, unphased SNP genotypes are compared to pairs of canonical haplotypes to identify potentially hemizygous regions. This method was successfully applied to identify five deletions in the 3' region of BRCA1.

Entities:  

Mesh:

Year:  2003        PMID: 12746396      PMCID: PMC1735469          DOI: 10.1136/jmg.40.5.346

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

1.  Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

Authors:  S V Tavtigian; A M Deffenbaugh; L Yin; T Judkins; T Scholl; P B Samollow; D de Silva; A Zharkikh; A Thomas
Journal:  J Med Genet       Date:  2005-07-13       Impact factor: 6.318

2.  A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets.

Authors:  Benjamin D Ward; Brant C Hendrickson; Thaddeus Judkins; Amie M Deffenbaugh; Benoît Leclair; Brian E Ward; Thomas Scholl
Journal:  J Mol Diagn       Date:  2005-02       Impact factor: 5.568

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.