【摘 要】
:
The haplotype phase problem is to find the true combination of genetic variants on a single chromosome from individuals.Furthermore,haplotypes of a gene can
【机 构】
:
DepartmentofBiostatistics,UniversityofIowa,IowaCity,IA52242,USADepartmentofInternalMedicine,Universi
【出 处】
:
第七届全国生物信息学与系统生物学学术大会
论文部分内容阅读
The haplotype phase problem is to find the true combination of genetic variants on a single chromosome from individuals.Furthermore,haplotypes of a gene can be expressed non-equally,a phenomenon known as allele-specific expression (ASE).Haplotype phasing and quantification of ASE are essential for studying the association between genotype and disease.No existing method solves these two intrinsically linked problems together.Rather,most current strategies have great dependence on known haplotypes or family data.Herein,we present a novel method,IDP-ASE,which utilizes a Bernoulli mixture model for RNA-seq data and MCMC to derive the most likely,set of haplotypes,phase each read to a haplotype,and estimate ASE.Our model leverages the strengths of both Second Generation Sequencing (SGS) and Third Generation Sequencing (TGS).The long read length of TGS data facilitates phasing,while the accuracy and depth of SGS data facilitates estimation of ASE.Moreover,IDP-ASE is capable of estimating ASE at both the gene and isoform level.We present the performance of IDP-ASE on simulation data and apply it to data from various real data sets which harbor extensive ASE events.
其他文献
I will introduce and present two bioinformatics software packages,RNAfinder and RNAstructure and their biological (i.e.,plant) and medical (i.e.,cancer) app
Despite the explosion in the numbers of cancer genomic studies,metastasis is still the major cause of cancer mortality.In breast cancer,approximately one-fi
The common transition metal ions include Fe2+,Fe3+,Mg2+,Mn2+,Zn2+,Cu2+and so on.They play the role of stability,helping maintain protein structure and regul
Knowledge about protein interaction sites provides detailed information of protein-protein interactions (PPIs).To date,nearly twenty thousands of PPIs from
Drug safety is one of the key issues in the future realization of precision medicine.However,the molecular basis of the adverse drug reactions (ADRs) has no
Associating genotype to phenotype at the molecular level is always a challenge.In "the Informational (Genetic) Word" all relationships are described in DNA
With the advances of high throughput sequencing technology and precision medicine,precision healthcare will become next frontier both for scientific researc
Computational design of peptide ligands that can potently and specifically recognize and bind to disease-related protein targets has attracted great interes
In this century,the rapid development of genomics biotechnologies,large data storage technologies,mobile network technology and portable medical devices mak
RNA-binding proteins (RBPs) play important roles in the post-transcriptional control of RNAs.Identifying RBP binding sites and characterizing RBP binding pr