- Variant calling🔍
- Computational Performance of a Germline Variant Calling Pipeline ...🔍
- Structural variants identified by Oxford Nanopore PromethION ...🔍
- CBI Germline Variant Analysis🔍
- Clara for Genomics🔍
- 5. Library Complexity and Short Read Alignment 🔍
- Filtering Strategies for Identifying Germline Variants that ...🔍
Short|read aligner performance in germline variant identification
Variant calling: Considerations, practices, and developments
Short-read whole-genome sequencing offers the most complete approach and typically yields 30×, while long reads with lower per-base quality are ...
ExScalibur: A High-Performance Cloud - Knowledge UChicago
Both the germline and somatic pipelines implement three short read aligners and six variant callers. ... Haplotype-based variant detection from ...
Computational Performance of a Germline Variant Calling Pipeline ...
Durbin, Fast and accurate short read alignment with Burrows-. Wheeler transform. Bioinformatics 25, 1754-1760 (2009). [10] H. Li, R. Durbin ...
identify somatic variants and germline genotypes. Existing NGS read ... Short Read Micro Aligner locally realigns reads to regionally ...
Structural variants identified by Oxford Nanopore PromethION ...
... aligners and germline structural variant call- ... ing tools, as well as a comparison with the performance of structural variant calling from ...
CBI Germline Variant Analysis - University of Utah Health Sciences
Detection of germline variants typically requires sequencing of exonic regions through a commercial capture panel kit, either across all transcripts or a subset ...
NVIDIA® Parabricks® accelerates gold-standard secondary analysis tools, from alignment through variant calling, enabling rapid analysis of short-read sequencing ...
5. Library Complexity and Short Read Alignment (Mapping) - YouTube
MIT 7.91J Foundations of Computational and Systems Biology, Spring 2014 View the complete course: http://ocw.mit.edu/7-91JS14 Instructor: ...
Galaxy is a community-driven web-based analysis platform for life science research.
Sequencing, Alignment, and Variant Callers
... germline-short-variants. ○ Accurate calls are really important for ... ○ RNA-seq can help with variant identification/interpretation.
Filtering Strategies for Identifying Germline Variants that ... - YouTube
September 28, 2011. Next-Gen 101: Video Tutorial on Conducting Whole-Exome Sequencing Research More: ...