3 ms·
I've found that Wikipedia has really good high-level information for a lot of the subject matter. For use cases, the business sells direct-to-consumer DNA tests
by inetknght 7y ago
I've found that Wikipedia has really good high-level information for a lot of the subject matter. For use cases, the business sells direct-to-consumer DNA tests. I've worked on several of the analysis products' softwares.
The compute-heavy workload calculates edit distance [0] of short paired-end sequenced DNA [1] vs the human genome [2]. There is open source software to manipulate the FASTA/FASTQ [3] and SAM files [4] and run the calculations [5]. The aligned file is processed in a couple of minutes to genetic variation report [6] which is used for some of the analysis products that were purchased. One popular product will give you a haplogroup [7] which basically tells you where you are in a genetic tree.
The relationship estimator uses a different sequencing technology and basically consumes a CSV file from the sequencer's manufacturer. It uses a proprietary algorithm to calculate centimorgans [8]. That then gives relationship estimates between you and other people who've purchased the product.
[0]: https://en.wikipedia.org/wiki/Needleman%E2%80%93Wunsch_algorithm https://en.wikipedia.org/wiki/Needleman%E2%80%93Wunsch_algor...
[1]: https://en.wikipedia.org/wiki/Next-generation_sequencing https://en.wikipedia.org/wiki/Next-generation_sequencing
[2]: https://en.wikipedia.org/wiki/Reference_genome https://en.wikipedia.org/wiki/Reference_genome
[3]: https://en.wikipedia.org/wiki/FASTQ_format https://en.wikipedia.org/wiki/FASTQ_format
[4]: https://github.com/samtools/hts-specs https://github.com/samtools/hts-specs
[5]: https://en.wikipedia.org/wiki/List_of_sequence_alignment_software https://en.wikipedia.org/wiki/List_of_sequence_alignment_sof...
[6]: https://en.wikipedia.org/wiki/Variant_Call_Format https://en.wikipedia.org/wiki/Variant_Call_Format
[7]: https://en.wikipedia.org/wiki/Haplogroup https://en.wikipedia.org/wiki/Haplogroup
[8]: https://en.wikipedia.org/wiki/Centimorgan https://en.wikipedia.org/wiki/Centimorgan