so RPSA -- the ribosomal protein which is mutated in human patients with isolated congenital asplenia -- would be uS2 in this nomenclature.

Useful mapping table to look at potential impact of a coding variant in a ribosomal protein based on structure.

A column with actual

PD-L1 is one of these 'famous proteins' because it is a popular target for immune checkpoint inhibitors.

Check 👇 for the phenotypic impact when a human has inherited PD-L1 deficiency. and how does it compare to PD-1 deficiency. Congrats Masato OGISHI and all involved.

Using a strategy combining both monogenic and polygenic approaches, researchers achieved a better identification of high-risk #BreastCancer patients in a large retrospective study bit.ly/49fTyM2 Alexandre Bolze Joe Grzymski #GIMO #PopulationScreening #BRCA1 #BRCA2 #PALB2 #ATM

🚨 New from Liz Cirulli & colleagues
📰 A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein
👉bit.ly/43sSxPj

#InTheNews : Helix's Alexandre Bolze & Renown Health's Healthy Nevada Project (@UNRmed) reveal research suggesting a combined single- and multi-gene approach to breast cancer screenings could help produce more accurate results.

Read: bit.ly/3IKQIDH

Great study on myocarditis and the impact of age and sex. Congrats Bettina Heidecker and all authors.

If you are looking for a research assistant position in a new and dynamic lab doing awesome human genetics, check Xiao-Fei Kong lab 👇

Remarkable and entertaining introduction to the field of IEI by Elena Hsieh Alexandre Bolze & Joseph Hernandez:
Inborn errors of immunity illuminate mechanisms of human immunology and pave the road to precision medicine onlinelibrary.wiley.com/doi/10.1111/im…

Great talk from Masataka Nishiga today at the Bay Area cardiovascular symposium.

Still a lot to understand on what causes myocarditis in the very rare individuals who develop it post vaccination. Great meeting Javid Moslehi too!

Thx Brian Black Benoit Bruneau for organizing

Congrats to Alexandre Bolze and coauthors on research demonstrating how personalized genetics can help defer breast cancer screening for those at low risk.

Read the feature on GenomeWeb: genomeweb.com/sequencing/bre…

Can polygenic risk scores be used to identify women at low risk of breast cancer to optimize screening and healthcare resource allocation? Via JAMA Oncology jamanetwork.com/journals/jamao…

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer
jamanetwork.com/journals/jamao…

Delaying the age to start mammogram screenings for women at low genetic risk could optimize health care resource allocation via JAMA Oncology.

twitter.com/JAMAOnc/status…

🧬Can genetics be used to delay mammogram screening?
JAMA Oncology

➡️Retrospective case-control study, 25 591 women
➡️Low-risk genetic group: absence of pathogenic variants or VUS in BRCA1, BRCA2, PALB2, ATM, or CHEK2, and a low polygenic risk score (bottom 10%)
➡️9.1% low risk,

Findings suggest that deferring mammogram screening by 5 to 10 years for women at low risk of breast cancer aligns with new draft recommendations and could optimize health care resource allocation. ja.ma/41DNxGB

Lack of association between HLA and asymptomatic SARS-CoV-2 infection medrxiv.org/content/10.110… via Alexandre Bolze et al