Thank you for your question. Whole genome sequencing (WGS) refers to DNA sequencing of an organism's entire genome. So technically yes, WGS was done to create the very first human reference genome, which was published in the early 2000s. (However, it was not sequenced all in one go like scientists do nowadays.) Today, scientists can compare a patient's genome to this reference genome (which has since seen updates) to help understand the genomic basis of their condition. Thank you again and we hope this helps. If you'd like to find out more, then please see our 2017 blog post which looks at the reference genome, where it came from and why it needs continuous updates: www.genomicseducation.hee.nhs.uk/blog/reference-genome-defining-human-difference/
Thank you for your comment. To answer your question: There are many ways to sequence DNA. How computers identify what DNA base is where depends on which way is used. In Sanger sequencing - one of the first ways invented - laboratory processing tags each base with a different fluorescent marker. The computer then looks for fluorescent signals from the DNA. For example, when the computer detects a green-fluorescent signal, it knows that there is an adenine DNA base located there. When it detects a blue-fluorescent signal, it knows that there is a guanine DNA base. In this way, the computer can ‘read’ DNA and tell us the order of bases. This is simplified explanation. For a more thorough explanation, please see this video by ClevaLab, which provides a fun look at Sanger sequencing: ua-cam.com/video/X9566yI2cBo/v-deo.html We hope this helps. Thank you again for the question.
@@GenomicsEducation this was a great explanation. Thank you. And how do fluorescent markers bind to the specific parts of the DNA to reveal where the light is coming from ? Do you make specific probes in labs and hybrid it with fluorescent molecules ? Im genuinely curious
@@kemalturgut9127 Thank you for your reply and question on fluorescent markers in the context of DNA sequencing. The technology is best understood visually. So, take a look at 'Sanger DNA Sequencing, From Then to Now' on ClevaLab's channel to see the whole process in an understandable way: ua-cam.com/video/X9566yI2cBo/v-deo.html
Thank you for your query. While we don't have an example sample report to hand, you may find the information provided within our online rare disease and solid tumours courses of use. There are parts within about genomic reports, including what you might expect to see. Solid tumours course: www.futurelearn.com/courses/genomics-in-the-nhs-a-clinicians-guide-to-genomic-testing-for-cancer-solid-tumours? Rare disease course: www.futurelearn.com/courses/genomics-in-the-nhs-a-clinicians-guide-to-genomic-testing-for-cancer-solid-tumours? All our educational materials (many are free) may be found online at: www.genomicseducation.hee.nhs.uk/education/ We hope this helps and thank you for taking the time to watch our film.
this is very exciting to watch. i look forward to a future working with biomedical data
back ground music is disturbing otherwise the video in very informative and good
2:28 Does the reference sequence/genome is also obtained by WGS?
Thank you for your question. Whole genome sequencing (WGS) refers to DNA sequencing of an organism's entire genome. So technically yes, WGS was done to create the very first human reference genome, which was published in the early 2000s. (However, it was not sequenced all in one go like scientists do nowadays.)
Today, scientists can compare a patient's genome to this reference genome (which has since seen updates) to help understand the genomic basis of their condition.
Thank you again and we hope this helps. If you'd like to find out more, then please see our 2017 blog post which looks at the reference genome, where it came from and why it needs continuous updates: www.genomicseducation.hee.nhs.uk/blog/reference-genome-defining-human-difference/
How do computers identify which nucleotides consists of what bases and where are they located etc. ? Im begging for an answer
Thank you for your comment. To answer your question: There are many ways to sequence DNA. How computers identify what DNA base is where depends on which way is used.
In Sanger sequencing - one of the first ways invented - laboratory processing tags each base with a different fluorescent marker. The computer then looks for fluorescent signals from the DNA.
For example, when the computer detects a green-fluorescent signal, it knows that there is an adenine DNA base located there. When it detects a blue-fluorescent signal, it knows that there is a guanine DNA base.
In this way, the computer can ‘read’ DNA and tell us the order of bases.
This is simplified explanation. For a more thorough explanation, please see this video by ClevaLab, which provides a fun look at Sanger sequencing: ua-cam.com/video/X9566yI2cBo/v-deo.html
We hope this helps. Thank you again for the question.
@@GenomicsEducation this was a great explanation. Thank you. And how do fluorescent markers bind to the specific parts of the DNA to reveal where the light is coming from ? Do you make specific probes in labs and hybrid it with fluorescent molecules ? Im genuinely curious
@@kemalturgut9127 Thank you for your reply and question on fluorescent markers in the context of DNA sequencing. The technology is best understood visually. So, take a look at 'Sanger DNA Sequencing, From Then to Now' on ClevaLab's channel to see the whole process in an understandable way: ua-cam.com/video/X9566yI2cBo/v-deo.html
Is there a sample report online?
Thank you for your query. While we don't have an example sample report to hand, you may find the information provided within our online rare disease and solid tumours courses of use. There are parts within about genomic reports, including what you might expect to see.
Solid tumours course:
www.futurelearn.com/courses/genomics-in-the-nhs-a-clinicians-guide-to-genomic-testing-for-cancer-solid-tumours?
Rare disease course:
www.futurelearn.com/courses/genomics-in-the-nhs-a-clinicians-guide-to-genomic-testing-for-cancer-solid-tumours?
All our educational materials (many are free) may be found online at:
www.genomicseducation.hee.nhs.uk/education/
We hope this helps and thank you for taking the time to watch our film.