Asians remain under-represented in genomic databases. Here we characterized clinically significant variants in three major Asian ancestries and show that self-reported race/ethnicity is often confounded by cryptic admixture. #genomics#precisionmedicine
https://t.co/giODt7mi2j
Love in the Time of Corona.
"One of the most painful aspects of this pandemic is the irremediable separation of patients from their families at the end of their lives"—Simone Benatti
A story that could make you cry @AnnalsofIM https://t.co/VTitTcaSv1
key findings of the below paper in the context of other important works (mskcc, dfci, erasmus, aurora):
RB1 mut> enriched in hr+ mBC, poor outcome, resistance to cdk4. 1500 pts from 3 randomized trials analyzed in the paper. soon a level I marker👇🏼 https://t.co/qN6xOtwQNl
Nice example. AI sifts through 5 million genetic variants to find approximately 700,000 rare ones; 962 are known to cause diseases; AI identifies one as the most likely culprit; the variant is rare occurring in less than 0.01% of the population. See photo
Chart lovers! I've blogged about some of our more serious crimes against data visualisation 🤯📈📊📉🤯
(We've learned a lot over the past few years so I hope this post will not only be entertaining but also useful.)
https://t.co/xb4MY6mRXc
This is crazy. Study shoes three people in a conference room over 2 hours can result in a Co2 level that can impair cognitive functioning. Ie. If you’re making decisions at the end of the meeting, you’re mentally less qualified to do so.
"Imagine trying to find one misspelled word in the entire Library of Congress."
This 8-min documentary shares Tyler's family's journey to a genetic diagnosis & treatment, with help from a wide-ranging team of geneticists, statisticians, clinicians & more. https://t.co/hNCPkWWrBC
1/n: We formed an international collaboration to dissect the genetic architecture of miscarriage traits: @ana_lg_soares @TLaisk @DeborahLawlor2 @don_f_conrad @bmneale @ras_nielsen@jorsmo@ChiayenChen & many more ⭐️'s https://t.co/WfZ4yKzrSP
"The reason Mr. Ibrahim keeps coming back to clinic is that you are the medicine. Your prescriptions may never cure his ‘bad belly,' but your care has restored his dignity and sense of humanity"
The care in #healthcare, by Richard Weinberg
https://t.co/tk6prduXZQ
@AnnalsofIM
The gnomAD preprint is out! We aggregated 125,748 exomes and 15,708 genomes into a public resource of >240M high quality variants, available at https://t.co/Gr5SW9v3A0 (1/5). https://t.co/EYb5pFzkp1