In order to identify the causative variant for albinism in the Kalinago, two samples (one albino individual and one parent) were selected for whole exome sequencing. Following shearing of input DNA (1 µg) using a Covaris E220 Focused-ultrasonicator (Woburn, MA, USA), exome enrichment and library preparation was done using the Agilent SureSelect V5+UTR kit (Santa Clara, CA, USA). The samples were sequenced at 50× coverage using a HiSeq 2500 sequencer (Illumina, San Diego, CA, USA).
The fastq files were aligned back to Human Reference Genome GRCh37 (HG19) using BWA (Li and Durbin, 2009 (link)) and bowtie (Langmead et al., 2009 (link)). Candidate SNP polymorphisms were identified using GATK’s UnifiedGenotyper (McKenna et al., 2010 (link)), while the IGV browser was used to examine the exons of interest for indels (Thorvaldsdóttir et al., 2013 (link)). Variants with low sequence depth (<10) in either sample were excluded from further consideration.
The fastq files were aligned back to Human Reference Genome GRCh37 (HG19) using BWA (Li and Durbin, 2009 (link)) and bowtie (Langmead et al., 2009 (link)). Candidate SNP polymorphisms were identified using GATK’s UnifiedGenotyper (McKenna et al., 2010 (link)), while the IGV browser was used to examine the exons of interest for indels (Thorvaldsdóttir et al., 2013 (link)). Variants with low sequence depth (<10) in either sample were excluded from further consideration.
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