Changes

NGSMendelian2017

3,167 bytes added, 16:53, 15 June 2018
The organizers and instructors for the course are Suzanne Leal (Baylor College of Medicine) and Michael Nothnagel (University of Cologne).
[[File:2017-06NGCM-Instructors.jpg|none|224x300px300px]]   ===Course Participants===[[File:2017-NGCM-Participants.jpg|none|500px]]<br />[[File:2017-NGCM-All.jpg|none|500px]]
===Downloads for Course===
::* Alohomora ([http://gmc.mdc-berlin.de/alohomora/previous_releases/alohomora_v0.32_linux.zip Linux] [http://gmc.mdc-berlin.de/alohomora/previous_releases/alohomora_v0.32-win32.zip Windows])<!-- ::* [https://statgen.research.bcm.edu/files/2016/10/data/alohomora.zip Data Set] -->::* IGV ([https://statgen.research.bcm.edu/files/software/igv/igv-2.3.97.jar igv.jar])<!::* [https://statgen.research.bcm.edu/files/2017/09/data/igv_exercise.zip BAM and VCF Files] X11 support ::* [https://sourceforge.net/projects/xming/ Xming (for Windows)]::* [https://www.xquartz.org/index.html XQuartz (for macOS)]Gemini::* [https://drive.google.com/file/d/0B2pJ9cgevF3sTS1DeGxYalFTN00/view Bam files for exercise] [https://statgen.research.bcm.edu/files/2017/09/img/Mendelian.tar.bz2 Virtualbox Image] of Course Computers (requires [https://www.virtualbox.org/ VirtualBox]) ===Commands for Computer Exercises===::* [https://statgen.research.bcm.edu/files/2017/09/commands/annovar-functional_annotation.txt Annovar - Functional Annotation]::* [https://statgen.research.bcm.edu/files/2017/09/commands/annovar-variant_filtering.txt Annovar - Variant Filtering]::* [https://statgen.research.bcm.edu/files/2017/09/commands/gemini.txt Gemini]::* [https://statgen.research.bcm.edu/files/2016/10/commands/seqlinkage.txt SEQLinkage]::* [https://statgen.research.bcm.edu/files/2017/09/commands/vat.txt Variant Assocaition Tools]::* [https://statgen.research.bcm.edu/files/2016/10/commands/vmt.txt Variant Mendelian Tools] ===Data Sets===::* [https://statgen.research.bcm.edu/files/2016/10/data/IGVexercise_BAMalohomora.zip Alohomora]::* [https://statgen.research.bcm.edu/files/2017/09/data/annovar.tar.gz Annovar]::* [https://statgen.research.bcm.edu/files/2017/09/data/gemini.tar.gz Gemini]::* [https://statgen.research.bcm.edu/files/2016/10/data/genehunter.tar.gz GeneHunter]::* [https://statgen.research.bcm.edu/files/2017/09/data/igv_exercise.zip IGV BAM Fileand VCF files]::* [https://statgen.research.bcm.edu/files/2016/10/data/linkage.tar.gz Linkage]::* [https://statgen.research.bcm.edu/files/2016/10/data/merlin.tar.gz Merlin]::* [https://statgen.research.bcm.edu/files/2016/10/data/seqlinkage.tar.gz SEQLinkage]::* [https://statgen.research.bcm.edu/files/2016/10/data/slink.tar.gz SLINK]::* [https://statgen.research.bcm.edu/files/2016/10/data/superlink.zip Superlink]::* [https://statgen.research.bcm.edu/files/2016/10/data/vat.tar.gz Variant Association Tools]::* [https://statgen.research.bcm.edu/files/2016/10/data/vmt.tar.gz Variant Mendelian Tools] -->
===Software Links===
::* [http://gmc.mdc-berlin.de/alohomora/ Alohomora]
::* [http://annovar.openbioinformatics.org/en/latest/user-guide/download/ ANNOVAR]
::* [http://www.ncbi.nlm.nih.gov/CBBresearch/Schaffer/fastlink.html FASTLINK]
::* [https://gemini.readthedocs.org/ Gemini]
::* [http://www.jurgott.org/linkage/LinkagePC.html LINKAGE]
::* [http://csg.sph.umich.edu/abecasis/Merlin/ MERLIN]
::* [http://bioinformatics.org/simped/rare/ RarePedSim]
::* [http://www.bioinformatics.org/seqlink/ SEQLinkage]
::* [http://www.jurgott.org/linkage/SLINK.htm SLINK/MSIM]
::* [http://statgen.research.bcm.edu/VMT Variant Mendelian Tools]
===Databases===
::* [http://exac.broadinstitute.org/ ExAC]
::* [http://gnomad.broadinstitute.org/ gnomAD]
 
===Bioinformatic Tools===
::* [http://cadd.gs.washington.edu/score CADD]
::* [http://fathmm.biocompute.org.uk/inherited.html FATHMM]
::* [http://mendel.stanford.edu/SidowLab/downloads/gerp/ GERP]
::* [http://www.genetics.wustl.edu/jflab/lrt_query.html LRT]
::* [http://www.mutationtaster.org/ChrPos.html Mutation Taster]
::* [http://genome.ucsc.edu/cgi-bin/hgGateway Nucleotide Conservation]
::* [http://compgen.bscb.cornell.edu/phast/ PhyloP]
::* [http://genetics.bwh.harvard.edu/pph2/bgi.shtml PolyPhen-2]
::* [http://provean.jcvi.org/genome_submit_2.php?species=human PROVEAN and SIFT]
::* [http://grch37.ensembl.org/Homo_sapiens/Tools/VEP VEP]
===Other Links===
::* [https://www.acmg.net/docs/Standards_Guidelines_for_the_Interpretation_of_Sequence_Variants.pdf ACMG Standards and Guidelines for the Interpretation of Sequence Variants]
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