While this is fantastic, aren't these genes identified by 23andme other low-cost DNA tests? I'm sure they do the BRCA1 and BRCA2 variants.
Or are there many more variants in this test?
Or are there many more variants in this test?
Invitae has argued that (especially in certain under-represented populations), the 23andme approach is going to miss a lot of important variants [1].
_disclaimer: I’m a former Invitae employee and still holding the bag on what used to be a lot of stock . All opinions are my own. _
[0] Rare on the population scale. To a good approximation each person has only 0, 1, or 2 copies of any given polymorphism.
[1] https://www.biospace.com/article/invitae-challenges-accuracy...
(for a while, only Myriad could do any tests with brca1/2 because they had a patent on the literal gene sequence. it went to the supreme court and the court said no, you cannot patent human gene sequences)