
EXOME.GS.WASHINGTON.EDU
Exome ProjectCurrent Exome Project Participants.
http://exome.gs.washington.edu/
Current Exome Project Participants.
http://exome.gs.washington.edu/
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Exome Project | exome.gs.washington.edu Reviews
https://exome.gs.washington.edu
Current Exome Project Participants.
Exome Project
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Current Exome Project Participants.
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SeattleSeq Annotation
http://snp.gs.washington.edu/SeattleSeqAnnotation141/HelpAbout.jsp
Download Example Input Files. SeattleSeq Annot. latest. SeattleSeq Ann. 138 (hg19). The SeattleSeq Annotation server provides annotation of SNVs (single-nucleotide variations) and small indels, both known and novel. This annotation includes dbSNP rs IDs, gene names and accession numbers, variation functions (e.g. missense), protein positions and amino-acid changes, conservation scores, HapMap frequencies, PolyPhen predictions, and clinical association. Please see the terms of service.
SeattleSeq Variation Annotation
http://snp.gs.washington.edu/SeattleSeqAnnotation137
Download Example Input Files. SeattleSeq Ann. latest hg19. SeattleSeq Ann. latest hg38. Input Variation List File for Annotation (NCBI 37 / hg19). SNVs only unless otherwise indicated). Specify output file format:. SeattleSeq Annotation file format. Specify column numbers (first is 1):. Reference allele (0 if not present). Second allele (can be same as first allele column). One genotype per line. Output is one genotype per line format. GATK bed (indels only). Specify output file format:. National Heart, ...
How to Use SeattleSeq Annotation
http://snp.gs.washington.edu/SeattleSeqAnnotation141/HelpHowToUse.jsp
Download Example Input Files. SeattleSeq Annot. latest. SeattleSeq Ann. 138 (hg19). How to Use SeattleSeq Annotation. Input Variation List File for Annotation. Only chromosomes 1-22 and X and Y will be annotated. The variations should be grouped by chromosome in the file, for maximum speed. The maximum number of lines in the file is 1 million, and the maximum file size is 1 GB. Long indels ( 1000 bp) and structural variants (including the VCF. 1 Both SNVs and indels can be submitted in VCF format. Th...
SeattleSeq Annotation Server Build Notes
http://snp.gs.washington.edu/SeattleSeqAnnotation141/HelpBuildNotes.jsp
Download Example Input Files. SeattleSeq Annot. latest. SeattleSeq Ann. 138 (hg19). SeattleSeq Annotation Build Notes. The current SeattleSeq Annotation version is 10.05, Oct. 28, 2015. Newer versions of GATK may document spanning deletions when there are multiple individuals in the VCF file. This puts strings like "*" or ". Build notes for 10.04, Oct. 25, 2015. The current server load is available at http:/ snp.gs.washington.edu/SeattleSeqAnnotation141/getLoad.jsp. Build notes for 10.03, May 3, 2015.
SeattleSeq Variation Annotation
http://snp.gs.washington.edu/SeattleSeqAnnotation141/index.jsp
Download Example Input Files. SeattleSeq Annot. latest. SeattleSeq Ann. 138 (hg19). Input Variation List File for Annotation. Use reference NCBI 38/hg38. Annotations for the NCBI gene model will be returned. SNVs only unless otherwise indicated). VCF SNVs and Indels (SNVs and/or indels). Specify output file format:. SeattleSeq (tabular) file format. Specify column numbers (first is 1):. Reference allele (0 if not present). Second allele (can be same as first allele column). One genotype per line.
SeattleSeq Variation Annotation
http://snp.gs.washington.edu/SeattleSeqAnnotation138
Download Example Input Files. SeattleSeq Annot. latest. Input Variation List File for Annotation. Use reference NCBI 37/hg19. Annotations for the NCBI gene model will be returned. SNVs only unless otherwise indicated). Specify output file format:. SeattleSeq Annotation file format. Specify column numbers (first is 1):. Reference allele (0 if not present). Second allele (can be same as first allele column). One genotype per line. Output is one genotype per line format. GATK bed (indels only).
SeattleSeq Annotation Examples
http://snp.gs.washington.edu/SeattleSeqAnnotation141/HelpDownloadExampleFiles.jsp
Download Example Input Files. SeattleSeq Annot. latest. SeattleSeq Ann. 138 (hg19). Example Files to Submit for Annotation (NCBI 38 / hg38). Multiple individuals, VCF format. Click here to download. Single-individual file, Maq format. The individual dbSNP ID is 5145. Click here to download. 3-individuals file, Maq format. Click here to download. 12 individuals, 2 groups, Maq format. Click here to download. Single-individual file, GATK bed format (indels). Click here to download. Click here to download.
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Main Page - Exome.com
Exome is the totality of expressed coding elements in genomes. Usually protein coding elements. - Jong Bhak. Expressed elements in genomes are:. Illucidated by exome sequencing. What is an exon. References related to Exome. Retrieved from " http:/ Exome.com/index.php/Main Page. Related Links [ Edit. This page was last modified on 21 October 2012, at 13:36. This page has been accessed 91,923 times. Content is available under.
FEVA | Family-based Exome Variants Analysis
Family-based Exome Variants Analysis. Skip to primary content. Skip to secondary content. Family-based Exome Variants Analysis (FEVA) is a desktop application to handle VCF files. The main goals of the FEVA are to:. Get a subset of variants based on customized filters quickly. Perform simple intersection analysis in family samples (e.g. Or shared variants in siblings) and across families (e.g. shared candidate genes). The download link will be available once the paper is published.
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TIGEM EXOME
Welcome to the TIGEM Exome Mendelian Disorder Pipeline. All Right Reserved 2013 by Telethon Institute of Genetics and Medicine.