PoolHap2 / PoolHapX 1.0.0 – Inferring Haplotype frequencies from Pooled Sequencing

PoolHap2 / PoolHapX 1.0.0

:: DESCRIPTION

PoolHap2 is a computer program that infers haplotype (or epitype in case of DNA methylation sequencing) from a pool.  In its current release, only pathogen sequencing application is implemented. In pathogen studies utilizing next generation sequencing, investigators ofte n collect samples naturally as pools of multiple strains, e.g., when the samples are taken from patients’ blood. To analyze these types of within-host polymorphisms, one would ideally like to determine the haplotypes in the sample. Even though isolation of single strains is possible by time-consuming experiments, the haplotype frequencies of different pathogen strains within a host are usually unknown, and this may well alter the initial within-sample frequencies. Here we developed Poolhap, a tool enabling researchers to infer the strain numbers and haplotype frequencies in silico from sequences of pooled samples.

The PoolHapX program reconstructs haplotypes within-host from pooled-sequencing data by integrating population genetic models (statistical linkage disequilibrium) with genomics reads (physical linkage). It approximate the resolution of single-cell sequencing using only pooled sequencing data, enabling within-host evolution analyses.

::DEVELOPER

Quan Long

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux/ Windows / MacOsX
  • Java

:: DOWNLOAD

 PoolHap , PoolHapX

:: MORE INFORMATION

Citation

Cao C, He J, Mak L, Perera D, Kwok D, Wang J, Li M, Mourier T, Gavriliuc S, Greenberg M, Morrissy AS, Sycuro LK, Yang G, Jeffares DC, Long Q.
Reconstruction of Microbial Haplotypes by Integration of Statistical and Physical Linkage in Scaffolding.
Mol Biol Evol. 2021 May 19;38(6):2660-2672. doi: 10.1093/molbev/msab037. PMID: 33547786; PMCID: PMC8136496.

PLoS One. 2011 Jan 5;6(1):e15292. doi: 10.1371/journal.pone.0015292.
PoolHap: inferring haplotype frequencies from pooled samples by next generation sequencing.
Long Q, Jeffares DC, Zhang Q, Ye K, Nizhynska V, Ning Z, Tyler-Smith C, Nordborg M.

extraBinomial 2.1 – Extra-binomial Approach for Pooled Sequencing data

extraBinomial 2.1

:: DESCRIPTION

extraBinomial tests for differences in minor allele frequency between groups and is based on an extra-binomial variation model for pooled sequencing data.

::DEVELOPER

Xin Yang <xin.yang at cimr.cam.ac.uk>, Chris Wallace

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • linux/ Windows/ MacOsX
  • R

:: DOWNLOAD

 extraBinomial

:: MORE INFORMATION

Citation

Bioinformatics. 2012 Nov 15;28(22):2898-904. doi: 10.1093/bioinformatics/bts553. Epub 2012 Sep 12.
Extra-binomial variation approach for analysis of pooled DNA sequencing data.
Yang X1, Todd JA, Clayton D, Wallace C.

Ehapp – Estimate Haplotype Frequency from Pooled Sequencing data

Ehapp

:: DESCRIPTION

Taking advantage of prior haplotype database, Ehapp implements lsqnonneg and GPSR algrithm to estimate the frequencies of haplotypes from pooled sequencing data.

::DEVELOPER

Bioinfomatics Lab of SouthEast Universtity

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Perl

:: DOWNLOAD

 Ehapp

:: MORE INFORMATION

Citation

Bioinformatics. 2014 Oct 9. pii: btu670.
Accurate estimation of haplotype frequency from pooled sequencing data and cost-effective identification of rare haplotype carriers by overlapping pool sequencing.
Cao CC1, Sun X

Psafe 20120530 – Pooled Sequencing Allele Frequency Estimation

Psafe 20120530

:: DESCRIPTION

Psafe is a pipeline to adjust the biases and errors of sequencing data to gain more accurate allele frequency estimation.

::DEVELOPER

Zhao Hongyu’s Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/ Linux/MacOsX
  • Perl

:: DOWNLOAD

 Psafe

:: MORE INFORMATION

Citation

Genet Epidemiol. 2012 Sep;36(6):549-60. doi: 10.1002/gepi.21648. Epub 2012 Jun 6.
Biases and errors on allele frequency estimation and disease association tests of next-generation sequencing of pooled samples.
Chen X, Listman JB, Slack FJ, Gelernter J, Zhao H.

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