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Variant prioritization by genomic data fusion
Published on May 13, 20142296 Views
NGS has rapidly increased our ability to discover the cause of many previously unresolved rare monogenic disorders by sequencing rare exomic variation. However, after standard filtering against nonsyn
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Chapter list
Variant prioritization by genomic data fusion00:00
Disease gene discovery in rare congenital disorders00:16
Genetic diagnosis07:52
Deletion del(22)(q12.2)14:44
Exome sequencing15:01
Exome sequencing and gene prioritization17:06
Candidate gene prioritization20:05
Data fusion26:58
Prioritization by example27:54
Region 12q24: 327 candidates30:31
Profiling known genes (Gene Ontology)31:36
Scoring candidates33:00
Data fusion with order statistics33:57
http://www.esat.kuleuven.ac.be/endeavour35:48
Prioritization for a monogenic disorder36:23
A novel locus for congenital heart defect on chromosome 6q24-2536:35
Translocation t(2;6)(q21;q25)39:50
Zebrafish morpholino knock-down42:31
Mutation sequencing42:40
Kernel methods for genomic data fusion42:45
Kernel-based genomic data fusion43:08
Kernel data fusion (a.k.a. MKL)45:22
One-class support vector machine47:52
Prioritization by novelty detection48:06
Kernel fusion for novelty detection48:21
Kernel fusion in one-class SVM49:19
L2 vs. L∞ kernel fusion49:43
A framework for kernel data fusion51:22
Kernel data fusion51:24
ETkL: Extract, Transform, Kernelize, Learn54:12
Handling large kernel matrices55:12
Incomplete Cholesky decomposition55:54
The No-Voodoo principle56:33
eXtasy01:00:29
Challenges01:00:51
Variant prioritization - 101:04:45
Variant prioritization - 201:06:40
Variant prioritization - 301:07:05
homes.esat.kuleuven.be/~bioiuser/eXtasy/01:07:38
Data sets01:08:00
Polyphen201:12:19
SIFT01:12:58
MutationTaster01:13:11
Where is the problem?01:13:31
Training sets - 101:14:25
Training sets - 201:14:51
Training sets - 301:15:30
Random forests01:16:14
Temporal stratification01:18:00
Training sets - 501:18:06
What’s the catch?01:19:55
Conclusions and perspectives01:21:14
The team01:25:04
Training sets - 401:26:08
homes.esat.kuleuven.be/~bioiuser/eXtasy/01:26:14