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2. Exome sequencing - Wikipedia

   en.wikipedia.org/wiki/Exome_sequencing

   Exome sequencing workflow: part 1. Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). [1] It consists of two steps: the first step is to select only the subset of DNA that encodes proteins.

3. Personal genomics - Wikipedia

   en.wikipedia.org/wiki/Personal_genomics

   Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial or full genome sequencing.

4. $1,000 genome - Wikipedia

   en.wikipedia.org/wiki/$1,000_genome

   Rothberg estimated the cost of the sequence—the first personal genome produced using a next-generation sequencing platform—at $1 million. [12] Watson's genome sequence was published in 2008. [13] A number of scientists have highlighted the cost of additional analysis after performing sequencing.

5. De novo transcriptome assembly - Wikipedia

   en.wikipedia.org/wiki/De_novo_transcriptome_assembly

   In addition, unlike genome sequencing, transcriptome sequencing can be strand-specific, due to the possibility of both sense and antisense transcripts. Finally, it can be difficult to reconstruct and tease apart all splicing isoforms. [9] Short read assemblers generally use one of two basic algorithms: overlap graphs and de Bruijn graphs. [10]

6. Veritas Genetics - Wikipedia

   en.wikipedia.org/wiki/Veritas_Genetics

   Veritas Genetics is a personal genomics startup based in Danvers, Massachusetts. [1] According to the company's press release, it was among the first companies to offer whole genome sequencing and interpretation for under $1,000.

7. Phred quality score - Wikipedia

   en.wikipedia.org/wiki/Phred_quality_score

   Phred quality scores shown on a DNA sequence trace A Phred quality score is a measure of the quality of the identification of the nucleobases generated by automated DNA sequencing . [ 1 ] [ 2 ] It was originally developed for the computer program Phred to help in the automation of DNA sequencing in the Human Genome Project .