Nice work by @benmpeter's lab.

Main results:
(1): A model for the segment length distribution under admixture that was ongoing for multiple generations.
(2): Extensive simulations for testing inference accuracy for admixture time + duration, ...

1/4

biorxiv.org/content/10.110…
including when introducing errors in the recombination map. It seems that long admixture introduces high variability in the inference of the admixture duration, in particular when the recombination rate is mis-specified.

2/4
(3) They looked at admixture LD decay in Neanderthal ancestry in modern humans. The empirical data is consistent with admixture lasting anywhere between one and thousands of generations.

3/4
A minor comment: I'm a bit puzzled by Eqs. (12-15). The LD between sites d Morgan apart is said to be modeled by the prob. of a segment to have len >d. However isn't this valid only for pulse admixture (where seg len is exponential, and thus memoryless)? Happy to learn more.

4/4

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More from @ShaiCarmi

6 Apr
Remember when the Broad Institute discovered polygenic scores? Now it seems as if they invented quantitative genetics.

See below for a thread. (Happy if someone could send me the full text.)

1/7

ahajournals.org/doi/abs/10.116…
The most remarkable "discovery" is this: the correlation between the (CAD) polygenic scores of siblings is 0.5. And that between second-degree relatives is 0.25.

As much as I know, this result is over 100 years old.
genetics.org/content/211/4/…

2/7 Image
The next experiment is less trivial. They asked: if one sib has PRS in the top 20%, what is the probability of the other sib to also have PRS in the top 20%?

3/7 Image
Read 10 tweets
5 Apr
Here are impressions from an *in-person* class I just taught - my first since Jan 2020.

The setting: statistics for medical students. Total enrolled: 220; total in class: ~120; watching from home: ~60.

1/8
(1) Strangely, while the students were first year undergrads, they already knew each other very well (not sure where from). It didn't feel at all like I was teaching students on their very first day on campus.

2/8
(2) In fact, they knew each other "too well". They were talking non-stop and it was difficult to get them to be quiet. I was greatly missing the "mute" button! Similarly, it felt weird to *actually wait* for the students to get seated.

3/8
Read 9 tweets
8 Jan
What can we learn from sequencing (100% genetically identical?) monozygotic twin pairs?

Turns out, a lot, particularly on early embryo development. Here, deCODE deeply sequenced ~400 twin pairs, along with their children/parents when available.

1/10

nature.com/articles/s4158…
The authors found variability in the no. of postzygotic mutations (not in the twin's parents), e.g. 39 twin pairs differed by >100 mutations, 38 pairs did not differ at all.
The number of mutations increased with age, indicating that most of them accumulate through life.

2/10 ImageImage
More interesting are mutations that appear in a single twin + a child of that twin. These mutations must have occurred during early development, before the specification of the primordial germ cells, as they appear in both soma (blood/cheeks) and germline (children).

3/10 Image
Read 10 tweets
6 May 19
Just posted our manuscript "Screening human embryos for polygenic traits has limited utility"

We provide an empirical foundation to the ethical debate regarding the generation of “designer babies” by screening IVF embryos. 1/11

@ehudkar @ToddLencz

biorxiv.org/content/10.110…
Large-scale GWASs yield increasingly accurate polygenic scores (PS), and it is now feasible to calculate such scores from genome-wide data of IVF embryos.

One company is already offering embryo screening for disease risk scores tinyurl.com/yygzdw7q 2/11
It is a short leap to imagine applying this technology outside disease risk. Prospective parents interested in “enhancing” the height or IQ of their future children might seek to generate and genotype IVF embryos, and use only the top-scoring one. 3/11
Read 11 tweets

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