Thanks for reaching out. To directly answer your question on why we say the child will be female when inheriting the X-chromosome from her dad, this is because males have both ‘X’ and ‘Y’ chromosomes (XY), while females have two ‘X’ chromosomes (XX). Therefore, should the dad provide an ‘X’ chromosome at conception, it’s expected that the baby will be born XX (one X from the dad and the other X from the mum) and so will be female. Should the dad provide a ‘Y’ chromosome at conception, it’s expected that the baby will be born XY (the Y from the dad and the X from the mum) and so will be male. Still uncertain? For a different take on this topic, see this BBC Bitesize article on sex determination: www.bbc.co.uk/bitesize/guides/zcdfmsg/revision/5 Thanks again for your comment and hope the above helps.

Hi and thank you for your query. This presentation's slides aren't available for download. Should you wish to re-visit this presentation in the future, then consider bookmarking our HPO terms explainer article, which also has this video, at: www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/the-human-phenotype-ontology

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: kzbin.info/www/bejne/jmqYZ2mvfpeWeNE 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: kzbin.info/www/bejne/jmqYZ2mvfpeWeNE

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.

Many thanks for your comment. There are several limitations in using AI to simplify complex medical problems: statistical models are inherently complex and difficult to reduce to simple terms without losing accuracy; AI struggles to understand the nuances of medical data, often leading to oversimplifications or incorrect conclusions; AI models can be biased, resulting in misleading interpretations; finally, human expertise is crucial for accurately conveying complex medical information, a task AI cannot fully replicate. We hope this provides a satisfactory answer to your question. Many thanks again and thanks also for taking the time to watch the film.

@@GenomicsEducation that's really helpful thanks a million times for it

Hi and thank you for the question. Any daughter from this couple will always inherit the X chromosome with the genetic variant for the condition from her father, but she may or may not inherit the X chromosome with the genetic variant for the condition from her mother. From this couple: - for daughters, 50% will have the condition while 50% will be carriers for the condition (on average). - for sons, 50% will have the condition and 50% will not have the condition (on average).