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Extended DNA Analysis

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but it was and
the the the the
and the without being said like introduce our next speaker for this evening and so she's a medical biotechnologists uh with a PhD in the cancer research and should be talking today about extending DNA analysis so please welcome the animal and yeah well thank you for being here and on yeah and for the kind introduction so just a
quick recap of and I'm not a biologist by training and um did my phd in cancer research my work as a PR consultant for health care as my day job and and I'm also a science communicator and this is seen as something of science communication is nothing to do with my day job and and I wish to talk to you about
DNA you've probably heard of it and um it stores our genetic information so it's a different kind of code than most people you're used to and it's made up of 4 bases adenine thymine guanine and cytosine which are usually abbreviated a T G and C and as you can see in the image that I'm adenine always binds thymine and whining always finds cytosine and vise versa and uh and so you have to but negative of 1 positive code always and there's coding and noncoding DNA so the coding DNA is actually genes so everything that shows up in your looks and other noncoding DNA is not genes so everything outside of the genes both are important and um DNA you might have
heard is also used as evidence in crimes whereas 99 . 9 per cent of our DNA is the same which is a good thing because otherwise we'd all be newtons and 0 . 1 per cent is different and differs from person to person and in 1984 Alec Jeffreys discovered DNA profiling where he saw that he could use is 0 . 1 per cent to um identify people and this is possible to compare the DNA profile of 1 person with another person and it can also be used to find relatives for paternity issues for example uh and um
often this is referred to as DNA fingerprints and what this really means is checking for short tandem repeats or S T hours and these str sigh repetitive sequences outside of genes so they have nothing to do with how we look like I'm and there are many as the hours with different lengths which are inherited and the pattern of these str hours differs from person to
person and basically it just looks like this so that you have for example the repeat 8 5 times were 6 times or 9 times and so on and the number of repeats is the thing that differs yeah
and if you look at the gene then this could look something like this
and basically you just count the number of the repeats so each box here represents repeat sometimes you have a similar and the same number and sometimes you have different numbers what do you do
to get a DNA fingerprint as 1st that you isolate the DNA from a crime scene of from probe you amplify these st hours and then you can separate them by their size because the different number of repeats generates a different size of the amplified sequence and to this you due to 16 st hours and then you get a profile that looks something like this which you might have seen in the TV series already and um and what I said was that the
DNA fingerprints don't really show how you look like however in and and because they are outside of genes however so as you may remember if we have a chromosomes and on use of 2 of these chromosomes are the so-called sex chromosomes and these are called X and Y and um you can identify that X. chromosomes and the Y chromosomes by the genes of the enamel of art to the mammal and um since 2004 we can use this to identify the sex chromosomes of a person because the X chromosome and gene 6 basis shorter but this is not always accurate so this is how all of them they
DNA fingerprint and looks like in the and before the scientists this an electropherogram basically just a measurements of the beta bands that you just saw and and you can also see on the on the on the lower left the X chromosome peak around and you see there's no Y chromosome peak so this person has 2 X chromosomes and
this is just a means of identification so it does not show so much about the person besides that sex chromosomes we can determine the sex of the person and um the
in 2016 there was a rape case and Friberg and
actually rape murder where some and was found raped and murdered at the dries up of the river in bottom button that and after a long search they found 1 here there was founded a hedge and it was 18 centimeters long and it was dyed blonde and on on the surveillance video of trend they could find a person that fit this profile of this here style which led to an arrest this was a 17 year old Afghan refugees and so on he confessed that he committed the crime and afterwards the police said that would the with extended DNA analysis the murderer could have been found much sooner but what is this extended
DNA analysis there's no new law and to and it you to come so I'm not already
here yet but proposed by body that matter which is now governed by the Green Party and the variance the just and governed by the Conservative party sees you and and they wish to draw more conclusions from our DNA so they want to look at the eye color is the hair color skin color and the biological age and um the conservative party also wants to look at the biogeographical ancestry that can be determined from the DNA and and this is basically just a synonym for ethnicity and some even say for rates and there are a lot for extended DNA analysis is often referred to as the DNA facial compasses and um the however in science terms it's called forensic DNA phenotyping and um this means that you look at genes which it determine the looks or other characteristics of a person but just from the DNA and the
genes so what you do here is that you check for single nucleotide polymorphisms or call it also called snips and these snips are basically just single base mutations that you can you see here the a and the seat of they can um be everywhere in the DNA and um with genomewide association studies psychology was you can um associates notes with the phenotype so some people who have a C here would look different than people who have an a or have a different trait the snips however do not have to because all they can just be a correlation the statistical correlation and this looks
like this come in our graphic here but if you have some for example the same PSNR appear for each person but a different 1 for each person here or for these persons the to the 1st 2 are the same and the 3rd 1 differs but in the genes you could maybe determine from the snips and the blonde hair of this person on the brown here of the 2nd person and the red hair of the vectors for the blue eyes off the 1st person the brown eyes off the 2nd person and the green eyes off the 3rd person snap analysis is basically
just done by checking for unknown sequence and then you have labeled bases and you can check which base finds here some this can be done by next generation sequencing which is a quick form of sequencing DNA and a very novel technique of and so you can do multiple snip analysis so you can check for several snaps at once so it's quite fast and it just gives you a statistical correlation of which person has which snips and M. and looks like what and and soon maybe we could also do a whole genome sequencing and then check for it and the basis that that are mutated the the
accuracy and if you check for the biogeographic ancestry if you just go for continental ancestry this is about 99 per cent so you can determine if you're European or African or Native American for example but and what you get sometimes from the media 20 cent Spanish or 20 % Turkish or something that doesn't work that's too complicated however hair color can be determined with an accuracy between 70 to 90 per cent so and 70 to 90 per cent of the time the result will be correct and I gotta the result for blue or brown here will be correct in over 90 per cent of the cases intermediate forms would be correct about 70 per cent of the cases and skin color will be correct and in about 80 to 90 per cent of the cases and to check for
this more closely here some examples from a paper by Kaiser at I and
only you can see here that for the brown hair and this was not quite as shorter so it was something between brown and black and the dark shade of the skin however was determined correctly at about 80 per cent uncertainty and the brown hair brown eyes were also correct with over 90 per cent certainty
and for the Brownian person here you have about 66 % likelihood for brown here and and also it could have gone even on blackboard bond here and in the shade here was not quite as accurate a was 50 50 and and for brown hair brown eyes it was 72 per cent likelihood of
accuracy and um this blond person year had some about 62 per cent accuracy of the blonde hair and 97 per cent of accuracy for the light shade of the skin and also 95 % accuracy of the blue eyes so this was quite but accurate
this prediction and here and the red hair person of 92 per cent red here however voiced its skin tone again this was quite undecided so it was again 50 50 so it's dangerous to draw comp you just because 1 is higher than the other and also for the brown hair brown eyes there was just 46 % certainty here
then you can check for the biological age which you can do doing the checking for the DNA methylation patterns so our DNA is modified by methyl groups and and this can be done to so-called H specific CpG islands so CpG islands are just a quick repetition between of CNG before a gene so in front of a gene and these can regulate the expression of the gene so um if a gene because is later brought up in your looks and um this some kind
of looks like this that you have for example an older person on the top who has a has methylated um CpG islands in front of the genes however and I younger person in the middle who doesn't have age-specific uh and CpG methylation and an intermediate age for a person with the just this 1 revelation and you can analyze
this and during during a chemical treatment of the DNA so you DNA and which has been methylated at the cytosine and that um treated and then you get a change of pace of it was unmethylated so you can see in the lower part it is some change to a different base called URIs sealed and then you can sequence the DNA and see how much was exchanged
but the accuracy here and there's a mean error of about 3 to 5 years but but some results will have up to 20 years so some errors and and there are some diseases that can confound the results for example cancer or anemia and also it's a problem because this is tissue specific methylation if you have mixed tissues so usually this is done from blood and saliva and and if you have a mixture of other tissues then this can be more inaccurate the so basically was
advertised if you hear the term DNA facial composited is this facial compasses here but um so this is probably the 1st thing that people think however the reality is more something like this and and so maybe you have a little bit the age of these persons and then only made and I'd like the out now for you to look around you and see how many people fit either of these profiles just to determine this for you for a 2nd and and and so this is just an
approximation of the phenotype and so am as you
might remember or know even the DNA does not have to equal the phenotype so people who have black hair in young years
might have gray here now and some people are born blank
an hour later of a different skin color and so some people may well have X Y chromosomes but are female and some other
factors may also be um for example kids who have blond hair and
grow up to be dark-haired adults
also hair color is always very very easy to change and to purple is not in our genes and and also
mixed ancestry so having ancestors from different continents of the world is also a problem often with determining the ancestry but
they are more problems with forensic DNA phenotyping and the 1st thing and most important ethical problem as the suspicion reversal so the police usually has to prove that you're guilty but if you're suspect's as due to your looks then with the extended DNA analysis you will be non suspect person of interest and and so you will be a kind of connected to the crime who are to the probe without having done anything the not you have to prove that you're innocent and um
Victor taller social scientists from Frankfurt he said suspicion a seizure of persons and then demanding proof of that person's innocence inverts are structural arrangement of power between law enforcement and the individual so and this is 1 of the most important things that you see here but with with forensic DNA phenotyping and um
oftentimes the science is supposed to equal facts and D. N. A. is an unbiased witness because it's infallible and factual because it's based on science and it's done by scientists however you have only an estimation about how people could possibly look like and and therefore it has to be interpreted by a human being and is therefore it's prone to bias and 1 of the
most important biases here is the confirmation bias and and I have to say that everyone and each of us however where we feel we are we always biased that's how our brain works and our brain likes to
think more positively and not so much negatively so if we anticipate an outcome we are more likely to prove that this outcome is true if we have the pay selective attention to items of interest and disregard the contradictory information just unwillingly and we will have a positivity bias so we like to confirm what we think is true and also if we have some something before we think it's more true it doesn't make sense but it's how brain works but there for D. N. A. is not an unbiased witness and also there's a
question of privacy here so the last possible hypothesis is that openly visible features determined from the DNA on not private and however here that appearance does not equal this statistical correlation and also if you have a real witness who saw your features you have more context and you can say for example the person was fleeing the scene or something Jesus on the looks and biogeographic background will always tell us more then we and of the most important maybe is skin color so fair skin is much more likely to get skin cancer or darker skinned people have a higher risk for heart disease and um also h is a factor for many diseases the the then I would
like to come to the point of discrimination so by definition forensic DNA phenotyping discriminate people with different ethnicities so if you think about it the relevance aspect who will always be the minority of the people who actually live in this area because if you find the looks of the predominant population this will be too large of a suspect group and and openly discussed forensic DNA phenotypes of a DNA traced to a crime will probably lead to more hate crimes or add to the hate crimes that already and in place here and so if deployed forensic DNA phenotyping needs to be confidential and used to avoid stigmatization of whole subpopulations and and
therefore the debate here is always very emotional because the forensic DNA phenotyping law was proposed after a very brutal rape case and the 1st people who demanded forensic DNA phenotyping were actually right extremism groups and so on the new long probably would have not helped the investigation because the perpetrator had strikingly died here and that was the reason he was identified on the surveillance video the outlook actually
used for forensic DNA phenotyping it's getting more accurate so people are trying now to determine the body height the body stature loss so if you're a bold person they have structure and also the phase structure and you can actually see and on the image approximations off a structure based on a snip analysis
so extended DNA analysis whole uses the whole genome wide association studies to approximate looks H. biogeographical ancestry and maybe soon much more and and it is not a means of identification but approximation and binding definition it's discriminatory and it will target minorities and um since it is biased it can always lead into the wrong direction so what can be done
here of forensic in forensic
DNA phenotyping is to come up and there's all only as a method of F last resort when everything else has failed it has to be confidential so there are no hate crimes due to this investigation and other precautions have to be done to avoid confirmation bias because no 1 and nothing is infallible and no 1 is unbiased and every wrongful investigation office aspect these to real perpetrator on prosecute the so back to the
newly all so the conference
of ministers in and of internal affairs in minister conference as supports this all inside of the security package and have that avoiding the interior ministers of the novel understanding intervene he said nobody understands why forensic scientists can form a very precise facial composited from very small traces but our police cannot use them 1 maybe you you understand so I'd like
to thank you very much for your attention and on if you'd like to know more about me you can find me on my website and if you want to know more about forensic DNA phenotyping and ethical issues with this the an importance of the only kind unordered part I doing very great work on this at the University of book and this is their website and I'm now open for questions thank you thank you so thank you very much for interesting talk if you have any questions the 2 microphones on each of the of those and the 1st question from a phone number for um I wanted to ask how could lead eventually the DNA sample should be to proceed with this procedure it probably has to be very very clean because I'm not quite sure how easy you can determine distinguished from I think it should be completely clean so if you have maybe DNA from a rate which is mingled with the victim's DNA it's difficult to get this out however if you can come control it with comparing it with the DNA of the victim then maybe some it can be done a little bit more accurately was from the internet to get the internet wants to know what's your opinion about using DNA fingerprints of of someone as a public key to twoidentifies persons on a distributed electric technology network good the I don't know what distributed nature technologies that with with this this this may have maybe you can ask this question of I'm on my block to send me an e-mail and we can discuss this and using it as identification for something I think right now is not really feasible because to do it accurately you need someone to come to do it for you in a scientific let under specific circumstances and if you have DNA from someone else on your fingers maybe you transfer this DNA and suddenly your identification doesn't work anymore so this would be what I would be thinking about this microphone number 2 thank you for your very good talk of the question is this seems to be a great difference between the opinion of science although we should use this technology and the politicians and and this kind of conflict I guess could only be only fault wired the scientists against the politicians is the kind of movement of scientists say well what the politicians say that we should use this in the soul of secure and not the without any bias this influence was a Datalog talking so this is basically what they wanna cry and Unilever what would be saying they're not saying that talking motion because they're raising awareness for the problems and so I would never say that but and something like that and them if they are also scientists who proposed and to use this as a as you as help in forensic investigations because a lot of us scientists we are very um well we will look at the world as many people do we think of it actually as well this is just the I and it's just an approximation of course people know this is an approximation and so on so we would be thinking so if the DNA is of a blond-haired person of course they would just be paying more attention to blond hair person but if there is a brownie a person who is a very much connected to the person in question then you might say some it even pay attention to this even though the DNA analysis said something else just because scientists aware that the DNA can be wrong and I'm not saying that they people who also understand that the DNA can lead us into the wrong direction even in the police force and everywhere but history has taught us that people a lot of times 10 to go where the the science lead them leads them here and if the science has not been as accurate at that and that point there may be a dozen so you know that it won't really work in this case In chemistry and we'll talk and I just wondered if you greater profile on the features they have call our skin color our eye color and each of the features as a probability of something like 2 . 7 to be correct and you multiply those of you probably do abilities up you will end up with a much lower probability for the whole role for it to be actually write something like maybe 25 or 30 % so and so I wonder whether there are actually any ideas how this method should be used in practice for the police and on the other hand what's our value this kind of rough I should have been caught and well the value in court I think it is that's and it's not really of value in part because it does not identify you it's a value during the investigations on the very beginning of starting to look for and who is responsible for the crime and therefore in the and then you would still have the DNA traces of DNA fingerprint and then you can still compare this to the person that you have found out and I'm if this doesn't match then this person could go free hopefully and um comparing the sum probabilities here or multiplying them then you just and you just narrowed down on something he would never be able to now a down on just a to a persons and then they are uh and you just have to pick 1 hour test the moles of for their DNA profiles so I would be careful here to just and multiply the the probabilities the US questions and if not then the big run applause for greater it was just what it is
that you're and the and the it but but
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Metadaten

Formale Metadaten

Titel Extended DNA Analysis
Untertitel Political pressure for DNA-based facial composites
Serientitel 34th Chaos Communication Congress
Autor _Adora_Belle_
Lizenz CC-Namensnennung 4.0 International:
Sie dürfen das Werk bzw. den Inhalt zu jedem legalen Zweck nutzen, verändern und in unveränderter oder veränderter Form vervielfältigen, verbreiten und öffentlich zugänglich machen, sofern Sie den Namen des Autors/Rechteinhabers in der von ihm festgelegten Weise nennen.
DOI 10.5446/34849
Herausgeber Chaos Computer Club e.V.
Erscheinungsjahr 2017
Sprache Englisch

Inhaltliche Metadaten

Fachgebiet Informatik
Abstract In 2017, the federal states of Baden-Wurttemberg and Bavaria suggested the extension of the law on the analysis of forensic DNA. Up to now, DNA fingerprinting in forensic settings may, in addition to non-coding features of DNA, only analyze the chromosomal sex of the person, but not any other openly visible feature. Bavaria and Baden-Wurttemberg, under the leadership of CSU and the Green party, are pushing forward to analyze DNA found at crime scenes regarding hair color, eye color, skin color and in the case of Bavaria even geographical ethnicity. Extended DNA analysis, or “DNA facial composite” is seen as an impartial witness to the crime and, in the eyes of the states’ government, would help solve crimes. But would it?
Schlagwörter Science

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