Family trio phasing and missing data recovery

نویسندگان

  • Dumitru Brinza
  • Jingwu He
  • Weidong Mao
  • Alex Zelikovsky
چکیده

Although there exist many phasing methods for unrelated adults or pedigrees, phasing and missing data recovery for data representing family trios is lagging behind. This paper is an attempt to fill this gap by considering the following problem. Given a set of genotypes partitioned into family trios, find for each trio a quartet of parent/offspring haplotypes explaining each trio without recombinations and recovering the SNP values missed in given genotype data. Our contributions include: formulating the pure-parsimony trio phasing without recombinations and the trio missing data recovery problems; proposing new greedy and integer linear programming based solution methods; extensive experimental validation of proposed methods showing advantage over the previously known methods.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Phasing and Missing Data Recovery in Family Trios

Although there exist many phasing methods for unrelated adults or pedigrees, phasing and missing data recovery for data representing family trios is lagging behind. This paper is an attempt to fill this gap by considering the following problem. Given a set of genotypes partitioned into family trios, find for each trio a quartet of parent haplotypes which agree with all three genotypes and recov...

متن کامل

ILP Methods for Family Trio Phasing

In population genotyping, it is common to genotype family trios consisting of the two parents and their child since that allows to recover haplotypes with higher confidence. Interestingly, the available software tools are primarily intended to phase only unrelated genotypes. In this section we first formulate the problem and describe specificity of family trio phasing and then analyze existing ...

متن کامل

Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family.

BACKGROUND The embryonic genome, including genotypes and haplotypes, contains all the information for preimplantation genetic diagnosis, representing great potential for mendelian disorder carriers to conceive healthy babies. METHODS We developed a strategy to obtain the full embryonic genome for a β-thalassemia-carrier couple to have a healthy second baby. We carried out sequencing for singl...

متن کامل

mendelFix: a Perl script for checking Mendelian errors in high density SNP data of trio designs

Here we present mendelFix, a Perl script for checking Mendelian errors in genome-wide SNP data of trio designs. The program takes 12-recoded PLINK PED and MAP files as input to calculate a series of summary statistics for Mendelian errors, sets missing offspring genotypes that present Mendelian inconsistencies, and implements a simplistic procedure to infer missing genotypes using parent inform...

متن کامل

Comparison of haplotyping methods using families and unrelated individuals on simulated rheumatoid arthritis data

In this report, we compared haplotyping approaches using families and unrelated individuals on the simulated rheumatoid arthritis (RA) data in Problem 3 from Genetic Analysis Workshop (GAW) 15. To investigate these two approaches, we picked two representative programs: PedPhase and fastPHASE, respectively, for each approach. PedPhase is a rule-based method focusing on the haplotyping constraint...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • International journal of bioinformatics research and applications

دوره 1 2  شماره 

صفحات  -

تاریخ انتشار 2005