Some genes have been shown to be associated with left-handedness.

Working with some clinicians, I've recommend them to ask their patients (whose genome will be sequenced) if they are "right or left-handed". It's a simple phenotype (without any ethical issue) that will be later fun/interesting to analyze through the sequencing data outside of the main study.

Do you know any other such kind of simple phenotype that we could ask to our patients ? :-)

  • $\begingroup$ I've heard wet/dry earwax is a very simple and genetically identifiable phenotype. $\endgroup$
    – James
    Nov 9, 2016 at 3:35

4 Answers 4


23andMe is a company that provides sequencing. Before they sequence your genome, they ask you to fill in a couple of surveys, one of which is about your physical features. Here is a list of some of the questions they ask:

  • How much hair do you have on your upper/lower back?
  • When you walk, in what direction do your feet naturally face?
  • Do you have a line or indentation (dimple) in the middle of your chin?
  • Excluding any hair loss, does your natural hairline have a widow's peak (a V-shaped peak of hair at the front of the hairline)?
  • Can you flip your tongue over so that the underside is on top?
  • Can you lift one eyebrow while keeping the other eyebrow in place?
  • Which is longer, your big toe or the toe next to your big toe?
  • On your left hand, which finger is longer, your index finger or your ring finger?
  • What is your shoe size in U.S. shoe sizes?
  • How would you describe the arches of your feet?
  • Can you bend down and place your entire palms on the floor while keeping your legs straight (see above image)?
  • Which image best matches the natural shape of your face (with your hair pulled back)? ...

That's a small list of phenotype questions you can ask ;-)

  • 1
    $\begingroup$ The full version of this list is long and that can bring about interview or questionnaire fatigue. Do not forget to factor in the length of time for a subject to answer all questions nor the cost of entering and analyzing those responses. Frankly, if 23andMe is asking these types of questions, you shouldn't because they will beat you to a report on the association. Deep phenotyping is critical, but direct that effort to collecting lifestyle data - like diet, sleep, exercise - which all influence the genotype-phenotype association $\endgroup$ Feb 22, 2012 at 17:14
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    $\begingroup$ I think that if 23andMe ask these questions, there is a strong reason for their selection. And if you pay the money for your genome to be sequenced, you would want to answer as many questions as they ask you. $\endgroup$ Feb 22, 2012 at 19:43
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    $\begingroup$ Just a small nitpick, 23andMe does not offer what is generally considered genome sequencing (which at current market prices would be northward of $8k). Their product is SNP genotyping via microarray analysis (at $10s-$100 / chip depending on the company). The array currently repported in use by the company is the Illumina OmniExpress. $\endgroup$
    – Cixelyn
    Feb 23, 2012 at 12:38
  • $\begingroup$ Yeah, the strong reason for the selection of these traits/questions is 23andMe's desire to engage a customer base with curiosity questions - like smelling asparagus metabolites in the urine. Their (business) model is quite different from a researcher trying to convince a review panel to fund their proposal, hence my call to focus on more medically oriented phenotypes. At the same time, 23andMe has an obstacle in obtaining reliable data on one's lifestyle. I have nothing against these questions when asked via the secure 23andMe site, but better questions can be asked by Pierre's colleagues. $\endgroup$ Feb 23, 2012 at 15:40

Another list of simple human traits can be found on the Western Kentucky University site.

I will ask also AB0 and Rh Blood Groups, you can use this also to check associations with other genotypes/phenotypes, see this stackexchange question

If you are going to sequence also the mitochondrial DNA, you may want to reflect on questions to ask also about their mother phenotypes.

Finally you may want to find also the windows, mac or linux preference gene.

  • 1
    $\begingroup$ I trust that the linux gene is recessive? ;-) $\endgroup$
    – Rory M
    Feb 22, 2012 at 17:01
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    $\begingroup$ I hope that the Linux gene is dominant! More likely that it is rare, and in combination with certain deletions ;) $\endgroup$ Feb 22, 2012 at 18:53
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    $\begingroup$ Please people, don't talk about dominant/recessive traits! Best case scenario, there are some associations ;-) Besides, the 'linux gene' would have more environmental effect. $\endgroup$ Feb 22, 2012 at 19:41
  • $\begingroup$ +1 Gergana! It is definitely a gene-by-environment interaction!. As GxEs are our forte, we'd take keen interest in the study. $\endgroup$ Feb 23, 2012 at 17:56

One that I wish we asked the subjects in our studies is: When do you normally go to sleep each evening and when do you normally wake up? This can get more detailed, but these 2 basic questions can allow segregation into morning or evening types (or both).

Deep phenotyping is critical to a better understanding of the genetic influence on disease risk phenotypes, and so one should collect lifestyle data - like diet, sleep, exercise - which all influence the genotype-phenotype association (these are called gene-environment interactions). If you can come up with phenotypes that distinguish different paths to the "same" disease outcome, that would be relevant to ask. In other words, there are often many paths to a very similar disease outcome, but as those paths are different, the disease may be slightly different. This requires sub-classification of disease - think of the different types of breast cancer. So, collecting these phenotypes, if you know them, in conjunction with diet, exercise, etc, will give you some very interesting possibilities.


Some other ones:


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