Phasing and Missing Data Recovery in Family Trios

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 haplotypes which agree with all three genotypes and recover the SNP values missed in given genotype data. Our contributions include (i) formulating the pure-parsimony trio phasing and the trio missing data recovery problems, (ii) proposing two new greedy and integer linear programming based solution methods, and (iii)extensive experimental validation of proposed methods showing advantage over the previously known methods.

برای دانلود 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

Family trio phasing and missing data recovery

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 recombi...

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

Genotype calling and haplotyping in parent-offspring trios.

Emerging sequencing technologies allow common and rare variants to be systematically assayed across the human genome in many individuals. In order to improve variant detection and genotype calling, raw sequence data are typically examined across many individuals. Here, we describe a method for genotype calling in settings where sequence data are available for unrelated individuals and parent-of...

متن کامل

A comparison of phasing algorithms for trios and unrelated individuals.

Knowledge of haplotype phase is valuable for many analysis methods in the study of disease, population, and evolutionary genetics. Considerable research effort has been devoted to the development of statistical and computational methods that infer haplotype phase from genotype data. Although a substantial number of such methods have been developed, they have focused principally on inference fro...

متن کامل

Package ‘ trio ’

Description Testing SNPs and SNP interactions with a genotypic TDT. This package furthermore contains functions for computing pairwise values of LD measures and for identifying LD blocks, as well as functions for setting up matched case pseudo-control genotype data for case-parent trios in order to run trio logic regression, for imputing missing genotypes in trios, for simulating case-parent tr...

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

برای دانلود 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

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2005