|
WES [Whole Exome Sequence] is about 1% of WGS [Whole Genome Sequence]
|
Your Exome is part of your Genome
|
When sequencing a WGS, X30 or 30X means each base pair will be sequenced about 30 times, although there can be considerable variance.
|
Multiple reads reduces the risk of error.
|
GRCh38 refers to the template used to align the DNA sequence readings against.
|
There are alternative and older references, such as GRCh37
|
The most accurate, the more recent references render the best results when working out your DNA-Address
|
If you have a sequence aligned to an older reference, it is possible to realign it to a newer one
|
A DNA-Address can be adjusted to change its alignment, which is useful for cross referencing
|
.BAM [Binary Alignment Map] files are often used to hold a WGS
|
.CRAM & .SAM files are very similar to .BAM files
|
A .BAM file holding a WGS is huge, causing download & storage challenges
|
'Download Convenience' refers to the high quality of service some sequencers provide, by allowing the download of a small KAd file or ultra-small DNA-Address rather than spending everybodies time, bandwidth & effort on downloading cumbersome BAM files
|
.CSV [Commer Seperated Values] files are often used to hold a WES
|
.KAd [Key Address] files are small files, holding the critical information necessary, to generate the artifacts used in emailing wider family via DNA
|
A DNA or Generic Address is as amall as an email address. In fact, it is an email address!
|
| Neither a .KAd file nor a Genetic or DNA Address actually contain sequenced DNA |
