crossstitch | Code for phasing SVs with SNPs | Genomics library
kandi X-RAY | crossstitch Summary
kandi X-RAY | crossstitch Summary
CrossStitch creates personalized reference-quality diploid genomes without de novo assembly. The basic idea is rather than trying to assemble a genome from scratch, it will leverage a reference genome as a baseline, and then update it with any SNPs, indels, or structural variations present in your sample. For the best results, the data requirements are similar to a de novo assembly: Illumina-based data for SNPs and Indels, Long Read data for structural variants, and Phasing data such as 10X Linked Reads and/or HiC data. However the CrossStitch process is much less demanding, produces more accurate results, and the process is much more predictable. The output will be a phased VCF file with all variants (SNPs, Indels, and SVs) as well as a phased personalized diploid genome including 2 copies of each chromosome with the variants inserted at the correct locations.
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Top functions reviewed by kandi - BETA
- Runs the analysis
- Gets the reference sequence for a given variant
- Reverse phase
- Retrieves a genomic substring from a genome file
- Runs splicing
- Auxiliary method to write the reads to a file
- Substitute the field with the given value
- Returns the field part of a field
- Utility method to remove invalid variants
- Display usage
- Removes invalid variants from an input file
- Main function used to read the entire genome from the file
- Score distance between positions
- Main method for testing
- Parses the cigar
- Main method to print out the VCF file
- Read VCF files
- Utility method to read out a file from the command line
- Main method for debugging
- Auxiliary method for testing
crossstitch Key Features
crossstitch Examples and Code Snippets
Lines of Code : 14
License : No License
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## CrossStitch requires extractHairs from HapCut2
$ git clone https://github.com/vibansal/HapCUT2
$ cd HapCUT2
$ make
$ git clone --recursive https://github.com/schatzlab/crossstitch.git
$ cd vcf2diploid
$ make
$ cd ../Iris
$ build.sh
## After thi $ crossstitch.sh phased_snps.vcf unphased_structural_variants.vcf long_reads.bam genome.fa outputprefix gender refine
Details:
phased_snps.vcf: VCF file of phased SNP and indel variants. Recommend LongRanger (10X only) or H *.hap1.fa.gz: Haplotype 1 chromosome fasta sequences
*.hap2.fa.gz: Haplotype 2 chromosome fasts sequences
*.spliced.scrubbed.vcf.gz: Finalized set of phased small and structural variants
Community Discussions
Trending Discussions on Genomics
QUESTION
I´m working with two text files that look like this: File 1
...ANSWER
Answered 2022-Apr-09 at 00:49Perhaps you are after this?
QUESTION
I'm using the software plink2 (https://www.cog-genomics.org/plink/2.0/) and I'm trying to iterate over 3 variables.
This software admits an input file with .ped extention file and an exclude file with .txt extention which contains a list of names to be excluded from the input file.
The idea is to iterate over the input files and then over exclude files to generate single outputfiles.
- Input files: Highland.ped - Midland.ped - Lowland.ped
- Exclude-map files: HighlandMidland.txt - HighlandLowland.txt - MidlandLowland.txt
- Output files: HighlandMidland - HighlandLowland - MidlandHighland - MidlandLowland - LowlandHighland - LowlandMidland
The general code is:
...ANSWER
Answered 2021-Dec-09 at 23:50Honestly, I think your current code is quite clear; but if you really want to write this as a loop, here's one possibility:
QUESTION
From this example string:
...ANSWER
Answered 2021-Dec-09 at 01:11use regexp_extract(col, r"&q;Stockcode&q;:([^/$]*?),&q;.*")
if applied to sample data in your question - output is
QUESTION
I am making a code which takes in jumble word and returns a unjumbled word , the data.json contains a list and here take a word one-by-one and check if it contains all the characters of the word and later checking if the length is same , but the problem is when i enter a word as helol then the l is checked twice and giving me some other outputs including the main one(hello). i know why does it happen but i cant get a fix to it
...ANSWER
Answered 2021-Nov-25 at 18:33As I understand it you are trying to identify all possible matches for the jumbled string in your list. You could sort the letters in the jumbled word and match the resulting list against sorted lists of the words in your data file.
QUESTION
I am trying to use plink1.9 to split multiallelic into biallelic. The input is that
...ANSWER
Answered 2021-Nov-17 at 09:45I used bcftools to complete the task.
QUESTION
I have a FASTA file that has about 300000 sequences but some of the sequences are like these
...ANSWER
Answered 2021-Oct-12 at 20:28You can match your non-X containing FASTA entries with the regex >.+\n[^X]+\n. This checks for a substring starting with > having a first line of anything (the FASTA header), which is followed by characters not containing an X until you reach a line break.
For example:
QUESTION
For example, I have two strings:
...ANSWER
Answered 2021-Oct-04 at 22:27For your example your pattern would be:
QUESTION
I am currently trying to run genomic analyses pipelines using Hail(library for genomics analyses written in python and Scala). Recently, Apache Spark 3 was released and it supported GPU usage.
I tried spark-rapids library start an on-premise slurm cluster with gpu nodes. I was able to initialise the cluster. However, when I tried running hail tasks, the executors keep getting killed.
On querying in Hail forum, I got the response that
That’s a GPU code generator for Spark-SQL, and Hail doesn’t use any Spark-SQL interfaces, only the RDD interfaces.
So, does Spark3 not support GPU usage for RDD interfaces?
...ANSWER
Answered 2021-Sep-23 at 05:53As of now, spark-rapids doesn't support GPU usage for RDD interfaces.
Source: Link
Apache Spark 3.0+ lets users provide a plugin that can replace the backend for SQL and DataFrame operations. This requires no API changes from the user. The plugin will replace SQL operations it supports with GPU accelerated versions. If an operation is not supported it will fall back to using the Spark CPU version. Note that the plugin cannot accelerate operations that manipulate RDDs directly.
Here, an answer from spark-rapids team
Source: Link
We do not support running the RDD API on GPUs at this time. We only support the SQL/Dataframe API, and even then only a subset of the operators. This is because we are translating individual Catalyst operators into GPU enabled equivalent operators. I would love to be able to support the RDD API, but that would require us to be able to take arbitrary java, scala, and python code and run it on the GPU. We are investigating ways to try to accomplish some of this, but right now it is very difficult to do. That is especially true for libraries like Hail, which use python as an API, but the data analysis is done in C/C++.
QUESTION
I have 1500 files with the same format (the .scount file format from PLINK2 https://www.cog-genomics.org/plink/2.0/formats#scount), an example is below:
...ANSWER
Answered 2021-Sep-07 at 11:10a tidyverse solution
QUESTION
I have been implementing a suite of RecordBatchReaders for a genomics toolset. The standard unit of work is a RecordBatch. I ended up implementing a lot of my own compression and IO tools instead of using the existing utilities in the arrow cpp platform because I was confused about them. Are there any clear examples of using the existing compression and file IO utilities to simply get a file stream that inflates standard zlib data? Also, an object diagram for the cpp platform would be helpful in ramping up.
...ANSWER
Answered 2021-Jun-02 at 18:58Here is an example program that inflates a compressed zlib file and reads it as CSV.
Community Discussions, Code Snippets contain sources that include Stack Exchange Network
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Install crossstitch
You can use crossstitch like any standard Java library. Please include the the jar files in your classpath. You can also use any IDE and you can run and debug the crossstitch component as you would do with any other Java program. Best practice is to use a build tool that supports dependency management such as Maven or Gradle. For Maven installation, please refer maven.apache.org. For Gradle installation, please refer gradle.org .
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