Seqanswers Leaderboard Ad

Collapse

Announcement

Collapse
No announcement yet.
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • Output of Cassandra annotation program

    Hello All,


    I am working on Human exome project, where i would like to annotate variant file(VCF).

    For this purpose i am using Cassandra, i have downloaded all required files and dependencies to there appropriate folder.

    Ran Cassandra successfully and got output file, in which some of the fields are empty in every coordinates.

    TMAF=. TAMR=. TASN=. TAFR=. TEUR=. RSID=. CD=. NA=. NC=. NE=. NF=. NG=. NH=. NI=. NJ=. NK=. NL=. NM=. MS=. CG=. AV=. AT=. EV=. ET=.



    Example:
    chr2 26426955 . C T 77.36 PASS OID=. OPOS=26426955 OREF=C OALT=T OMAPALT=T AO=17 DP=35 FAO=17 FDP=35 FR=. FRO=18 FSAF=3 FSAR=14 FSRF=11 FSRR=7 FWDB=0.0266816 FXX=0 HRUN=1 HS=. LEN=1 MLLD=72.2745 NR=. NS=. QD=8.84143 RBI=0.051232 REFB=0.00389769 REVB=-0.0437356 RO=18 SAF=3 SAR=14 SRF=11 SRR=7 SSEN=0 SSEP=0 SSSB=-0.444925 STB=0.756423 TYPE=snp VARB=-0.00587872 PU=. RFG=nonsynonymous_SNV GI=HADHA:NM_000182:exon12:c.G1196A: p.R399Q,,NONE(dist=NONE),NONE(dist=NONE),HADHA:uc002rgy.3:exon12:c.G1196A: p.R399Q,HADHA:uc010yks.2:exon11:c.G935A: p.R312Q,,ENSG00000084754:ENST00000380649:exon12:c.G1196A: p.R399Q, UCG=nonsynonymous_SNV ENS=nonsynonymous_SNV ENSGN=ENSG00000084754 MT=intergenic MTGN=. GN=HADHA TMAF=. TAMR=. TASN=. TAFR=. TEUR=. RSID=. CD=. NA=. NC=. NE=. NF=. NG=. NH=. NI=. NJ=. NK=. NL=. NM=. MS=. CG=. AV=. AT=. EV=. ET=. SF=Bifunctional_subunit. SD=Maternal_acute_fatty_liver_of_pregnancy_(AFLP)_[MIM:609016]:_Severe_maternal_illness_occurring_during_pregnancies_with_affected_fetuses._This_disease_is_associated_with_LCHAD_deficiency_and_characterized_by_sudden_unexplained_infant_death_or_hypoglycemia_and_abnormal_liver_enzymes_(Reye-like_syndrome)._Note=The_disease_is_caused_by_mutations_affecting_the_gene_represented_in_this_entry. SM=. SX=. ENN=. ENC=. CID=. CGENE=. CSTRAND=. CCDS=. CAA=. CCNT=. GT:GQP:FDP:RO:FRO:AO:FAO:SAR:SAF:SRF:SRR:FSAR:FSAF:FSRF:FSRR 0/1:76:35:35:18:18:17:17:14:3:11:7:14:3:11:7


    Command:

    java -jar /opt/installers/Cassandra_13.10.01/Cassandra.jar -t Annotate -i ../TSVC_variants_IonXpress_006.vcf -o TSVC_variants_IonXpress_006_OUT_Cassandra.vcf -n 15 --annovarPath /opt/installers/ANNOVAR_LATEST/annovar/ --annovarDB /opt/installers/ANNOVAR_LATEST/annovar/hg19_humandb_annovar/ --annotationSources /opt/installers/Cassandra_13.10.01/cassandraDataSources/DataSources/

    Please give me suggestions.
    Last edited by sachin; 04-03-2014, 10:58 PM.

Latest Articles

Collapse

  • seqadmin
    Essential Discoveries and Tools in Epitranscriptomics
    by seqadmin




    The field of epigenetics has traditionally concentrated more on DNA and how changes like methylation and phosphorylation of histones impact gene expression and regulation. However, our increased understanding of RNA modifications and their importance in cellular processes has led to a rise in epitranscriptomics research. “Epitranscriptomics brings together the concepts of epigenetics and gene expression,” explained Adrien Leger, PhD, Principal Research Scientist...
    04-22-2024, 07:01 AM
  • seqadmin
    Current Approaches to Protein Sequencing
    by seqadmin


    Proteins are often described as the workhorses of the cell, and identifying their sequences is key to understanding their role in biological processes and disease. Currently, the most common technique used to determine protein sequences is mass spectrometry. While still a valuable tool, mass spectrometry faces several limitations and requires a highly experienced scientist familiar with the equipment to operate it. Additionally, other proteomic methods, like affinity assays, are constrained...
    04-04-2024, 04:25 PM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by seqadmin, Yesterday, 11:49 AM
0 responses
15 views
0 likes
Last Post seqadmin  
Started by seqadmin, 04-24-2024, 08:47 AM
0 responses
16 views
0 likes
Last Post seqadmin  
Started by seqadmin, 04-11-2024, 12:08 PM
0 responses
61 views
0 likes
Last Post seqadmin  
Started by seqadmin, 04-10-2024, 10:19 PM
0 responses
60 views
0 likes
Last Post seqadmin  
Working...
X