From Genome Analysis Wiki
Jump to navigationJump to search
6 bytes removed
, 18:44, 17 February 2013
Line 5: |
Line 5: |
| We will start with a set of short sequence reads and associated base quality scores (stored in a fastq file), find the most likely genomic location for each read (producing a BAM file), generate an initial list of polymorphic sites and genotypes (stored in a VCF file) and use haplotype information to refine these genotypes (resulting in an updated VCF file). | | We will start with a set of short sequence reads and associated base quality scores (stored in a fastq file), find the most likely genomic location for each read (producing a BAM file), generate an initial list of polymorphic sites and genotypes (stored in a VCF file) and use haplotype information to refine these genotypes (resulting in an updated VCF file). |
| | | |
− | == '''Note:''' if you are interesting in detecting '''de novo mutations''', or are working on '''a small number of families''' with '''high coverage data''' (e.g. exome sequencing), please first try the other program [http://genome.sph.umich.edu/wiki/Polymutt Polymutt] we developed. == | + | == '''Note:''' if you are interesting in detecting '''de novo mutations''', or are working on '''a small number of families''' with '''high coverage data''' (e.g. exome sequencing), please first try our sister program [http://genome.sph.umich.edu/wiki/Polymutt Polymutt] . == |
| | | |
| === Download === | | === Download === |