Daniel:Notebook/Haplotyping
Haplotyping Project[edit]
Aims[edit]
Overall aims for the paper, to be completed before publication
- Compare BEAGLE computational inferences to experimental results
- Create most complete diploid genome yet
- Consensus results against published LFR data
- Suggest the most cost effective way to phase a genome, including scale-up
- Phase the HLA region with and without BEAGLE
- Propose the most cost effective way to obtain this information on a per patient level
Specific Aims[edit]
Table of current specific aims, to be completed within short time frames. Specific aims should make progress towards the completion of aims (above).
Specific Aim | Date to Completion | Date of Completion | Notebook Link |
Combine PGP1 data from Complete Genomics WGS to create more defendable/accurate VCF | January 1, 2016 | Merging Complete Genomics WGS data | |
Comparing data sets using consistent pairs method | January 1, 2016 | Consistent Pairs Method | |
Use BEAGLE to get inferences for PGP1 | August 1, 2015 | Using BEAGLE to infer population data | |
Assess variant calling using freebayes, create ROC | January 1, 2016 | Genotyping Samples | |
Combine Hi-C and BAC data to get more complete haplotypes | August 1, 2015 | Combining BAC and HiC Data | |
Use Eric's pipeline to segment SISSOR data | January 1, 2015 | SISSOR Segmentation Pipeline | |
Compare haplotypes in MHC Region | January 1, 2015 | ||
CPT-Seq for PGP1 | March 1, 2016 | CPT-Seq Pipeline |
Data[edit]
List of pages related to data.
Calendar and Experiments[edit]
CPT-Seq for PGP1[edit]
<calendar> name=Daniel:Notebook/Haplotyping format=%name/%year-%month-%day date=2014/02/01 view=oneyear </calendar>
Data[edit]
Athurva's GATK Pipeline for Variant Calling
This project utilizes several data sources. The data sources and relevant information are listed below.
BAC Data[edit]
The BAC data is on genome miner, in the following path:
- /media/LTS_33T/KZ_LTS33T/PGP1_BacPool
The folder contains several subfolders:
- old_calls
- Contains the old variant call files
- vcf_files
- Contains a lot of vcf files
- all_pools_combined
- Contains all the heterozygous call files. Still unsure of the format
- fixed.bam
- Contains all of the bam files for each index
- filtered_vcf
- Seems to contain the newest .vcf files, probably the best ones to use
- assembled_haplotypes
- Contains the final phase output of HapCUT that was used for the BAC pools
- het_sites
- Contains the heterozygous site files for each chromosome. Still unsure of the format
HiC Data[edit]
The HiC data is on TSCC, in the following path:
- /oasis/tscc/scratch/sselvaraj/human_tissues/htissues/KZPGP1/fastq/hi-c
Microfluidic Data[edit]
The data sets are on genome miner, in the following paths:
- Better one:/media/Syn_15T/Eric_15T/PGP1_21
- Second best:/media/Syn_15T/Eric_15T/PGP1_22
This data may have to be processed in the same manner as the BAC pools. If so, I will follow Athurva's pipeline, which was used for the original BAC pool paper.