Table of Contents
What is GRCh38 hg38?
GRCh38/hg38 is the assembly of the human genome released December of 2013, that uses alternate or ALT contigs to represent common complex variation, including HLA loci. Alternate contigs were also present in past assemblies but not to the extent we see with GRCh38.
How do you use BWA MEM?
Step 1: Index the reference database file that comprises 59 genomes. Step 2: Use BWA-MEM to align paired-end sequences. Briefly, the algorithm works by seeding alignments with maximal exact matches (MEMs) and then extending seeds with the affine-gap Smith-Waterman algorithm (SW). Step 3: Convert sam file to bam file.
Is GRCh38 same as HG38?
Yes, they are the same version of the human genome. GRCh Build 38 stands for “Genome Reference Consortium Human Reference 38” and it is the primary genome assembly in GenBank; hg38 is the ID used for GRCh Build 38 in the context of the UCSC Genome Browser. 2.
What does BWA-MEM mean?
BWA-MEM is a new alignment algorithm for aligning sequence reads or long query sequences against a large reference genome such as human. It automatically chooses between local and end-to-end alignments, supports paired-end reads and performs chimeric alignment.
What does hg38 stand for?
Genome Reference Consortium Human Reference 38
Yes, they are the same version of the human genome. GRCh Build 38 stands for “Genome Reference Consortium Human Reference 38” and it is the primary genome assembly in GenBank; hg38 is the ID used for GRCh Build 38 in the context of the UCSC Genome Browser.
How does BWA aligner work?
For SOLiD reads, BWA converts the reference genome to dinucleotide ‘color’ sequence and builds the BWT index for the color genome. Reads are mapped in the color space where the reverse complement of a sequence is the same as the reverse, because the complement of a color is itself.
What does BWA index do?
BWA is a software package for mapping low-divergent sequences against a large reference genome, such as the human genome. It consists of three algorithms: BWA-backtrack, BWA-SW and BWA-MEM.