BOL: All site bookmarks

CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants

BioJoker — Tue, 09 Apr 2019 07:23:37 -0500

Validated a widely accessible approach that can be used to establish functional causality for noncoding sequence variants identified by GWASs.

https://www.nature.com/articles/nm.3975

Address of the bookmark: https://www.nature.com/articles/nm.3975

Flye: Fast and accurate de novo assembler for single molecule sequencing reads

BioJoker — Tue, 02 Apr 2019 21:54:55 -0500

Flye is a de novo assembler for single molecule sequencing reads, such as those produced by PacBio and Oxford Nanopore Technologies. It is designed for a wide range of datasets, from small bacterial projects to large mammalian-scale assemblies. The package represents a complete pipeline: it takes raw PB / ONT reads as input and outputs polished contigs. Flye also includes a special mode for metagenome assembly.

Address of the bookmark: https://github.com/fenderglass/Flye

OMTools: a software package for visualizing and processing optical mapping data

BioJoker — Fri, 29 Mar 2019 01:21:54 -0500

OMTools, an efficient and intuitive data processing and visualization suite to handle and explore large-scale optical mapping profiles. OMTools includes modules for visualization (OMView), data processing and simulation. These modules together form an accessible and convenient pipeline for optical mapping analyses.

https://github.com/TF-Chan-Lab/OMTools

Address of the bookmark: https://github.com/TF-Chan-Lab/OMTools

ChIPulate: A Python3 framework to simulate read counts in a ChIP-seq experiment

Abhimanyu Singh — Mon, 25 Mar 2019 12:46:47 -0500

ChIP-seq simulation pipeline, ChIPulate, we assess the impact of various biological and experimental sources of variation on several outcomes of a ChIP-seq experiment, viz., the recoverability of the TF binding motif, accuracy of TF-DNA binding detection, the sensitivity of inferred TF-DNA binding strength, and number of replicates needed to confidently infer binding strength.

Address of the bookmark: https://github.com/vishakad/chipulate

DISTRUCT: a program for the graphical display of population structure

Abhimanyu Singh — Mon, 25 Mar 2019 03:33:44 -0500

distruct is a program that can be used to graphically display results produced by the genetic clustering program structure or by other similar programs. The figures produced by distructdisplay individual membership coefficients in the same form as used in "Genetic structure of human populations" Science 298: 2381-2385 (2002). Various options enable the user to control left-to-right printing order of populations, bottom-to-top printing order of clusers, colors, and other graphical details. [Example]

[Download software package (includes the manual)] (you will be directed first to a registration page and we would very much appreciate if you register)
[Download manual]
[Download software note from Molecular Ecology Notes 4: 137-138 (2004)]

To use the UNIX versions, unzip and untar the files in an appropriate directory using

gunzip filename.tar.gz; tar xvf filename.tar

where "filename.tar.gz" is the downloaded file. Winzip will unzip the Windows version. Run the program by typing

./distruct

in UNIX or

distruct

from a Dos prompt in Windows. It will produce a figure using the data that are represented in the Central/South Asia K=5 plot in Science 298: 2381-2385 (2002).

Please send comments or problems with distruct to Noah Rosenberg.

October 15, 2014 — Users of Distruct may also find CLUMPP and CLUMPAK of interest.

Address of the bookmark: https://rosenberglab.stanford.edu/distruct.html

plumber:An R package that converts your existing R code to a web API

BioJoker — Wed, 13 Mar 2019 19:20:10 -0500

plumber allows you to create a REST API by merely decorating your existing R source code with special comments. Take a look at an example.

# plumber.R

#* Echo back the input
#* @param msg The message to echo
#* @get /echo
function(msg=""){
  list(msg = paste0("The message is: '", msg, "'"))
}

#* Plot a histogram
#* @png
#* @get /plot
function(){
  rand <- rnorm(100)
  hist(rand)
}

#* Return the sum of two numbers
#* @param a The first number to add
#* @param b The second number to add
#* @post /sum
function(a, b){
  as.numeric(a) + as.numeric(b)
}

Address of the bookmark: https://www.rplumber.io/

HipSTR: Haplotype inference and phasing for Short Tandem Repeats

BioJoker — Thu, 07 Mar 2019 21:13:06 -0600

HipSTR was specifically developed to deal with these errors in the hopes of obtaining more robust STR genotypes. In particular, it accomplishes this by:

Learning locus-specific PCR stutter models using an EM algorithm
Mining candidate STR alleles from population-scale sequencing data
Employing a specialized hidden Markov model to align reads to candidate alleles while accounting for STR artifacts
Utilizing phased SNP haplotypes to genotype and phase STRs

Address of the bookmark: https://github.com/tfwillems/HipSTR

SDA: Long-read sequence and assembly of segmental duplications

Jit — Tue, 05 Mar 2019 10:00:57 -0600

Segmental Duplication Assembler (SDA; https://github.com/mvollger/SDA) constructs graphs in which paralogous sequence variants define the nodes and long-read sequences provide attraction and repulsion edges, enabling the partition and assembly of long reads corresponding to distinct paralogs.

https://github.com/mvollger/SDA

Address of the bookmark: https://www.nature.com/articles/s41592-018-0236-3

dotPlotly: Generate an interactive dot plot from mummer or minimap alignments

Rahul Nayak — Thu, 21 Feb 2019 10:22:17 -0600

Create an interactive dot plot from mummer output OR PAF format

R script that makes a plotly interactive and/or static (png/pdf) dot plot.

Shiny app available for testing

Address of the bookmark: https://github.com/tpoorten/dotPlotly

IQ-TREE: Efficient software for phylogenomic inference

Jit — Mon, 18 Feb 2019 04:25:11 -0600

A fast and effective stochastic algorithm to infer phylogenetic trees by maximum likelihood. IQ-TREE compares favorably to RAxML and PhyML in terms of likelihoods with similar computing time

IQ-TREE found higher likelihoods between 62.2% and 87.1% of the studied alignments, thus efficiently exploring the tree-space. If we use the IQ-TREE stopping rule, RAxML and PhyML are faster in 75.7% and 47.1% of the DNA alignments and 42.2% and 100% of the protein alignments, respectively. However, the range of obtaining higher likelihoods with IQ-TREE improves to 73.3–97.1%. IQ-TREE is freely available at http://www.cibiv.at/software/iqtree

Address of the bookmark: http://www.iqtree.org/