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Items tagged with "exome" (2)
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Workflows (2)
Analysis of the exome sequencing data for the following article:
Nat Genet. 2011 Mar 6;43(4):306-8.
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C.
using knime4bio
Created: 2011-09-06 | Last updated: 2011-09-06
Credits:
Pierre Lindenbaum
Sequences Alignment and Sorting by Coordinate
(1)
We automatically retrieve BAM filenames based on the FASTA_R1 port name
We assume FASTA_R1 name to be SAMPLENAME.R1.FASTQ or SAMPLENAME.R1.fastq.gz
Alignment via Burrows-Wheeler transformation using BWA-MEM algorithm
Sorts the input SAM or BAM
Post Alignment File Processing
We automatically retrieve BAM filenames based on the FASTA_R1 port name
We assume FASTA_R1 name to be SAMPLENAME.R1.FASTQ or SAMPLENAME.R1.fastq.gz
MarkDuplicates examines aligned records in the supplied SAM or BAM f...
Created: 2016-05-16 | Last updated: 2016-07-06