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Causal Genetic Variants in Stillbirth | NEJM nejm.org/doi/full/10.10… Important paper for #PediPath. Congratulations to our colleague, Halit Pinar! Soc. Pediatric Path.

Little is known about the genetic causes of stillbirth. In this study, investigators used exome sequencing analysis to identify a genetic cause in a relatively small percentage of cases and to provide some interesting clues as to where to look for more "causative" genes.

"Genomic Insights into Stillbirth," an Editorial by Monica Wojcik, MD, now available.

cuimc.columbia.edu/news/after-sti…

Very excited to share our analysis of exome sequencing data from 200K participants in the UK Biobank. AstraZeneca Keren Carss andrew harper RUTH MARCH #SlavePetrovski biorxiv.org/content/10.110…

Using rare-variant collapsing we showed that even patients with presumed ischemic heart failure often have rare deleterious variants in cardiomyopathy genes such as TTN. Thanks to everyone involved. David Goldstein @OlympeChazara carolina Dirk Paul Keren Carss et al.

Sex designations on birth certificates offer no clinical utility, and they can be harmful for intersex and transgender people. Moving such designations below the line of demarcation would not compromise the birth certificate’s public health function but could avoid harm.

Eric Lander of Broad Institute named White House science adviser to president elect Joe Biden. A short thread w/ a few observations about Eric Lander who i have previously called "the single most influential and powerful scientist in America." 1/n washingtonpost.com/science/2021/0…

Prenatal tests promise to detect rare genetic diseases in babies by scanning DNA. Labs market them as "reliable." They tell women to have "total confidence" in results. It turns out, the grave predictions made by those tests are usually wrong. (1/5) nytimes.com/2022/01/01/ups…

Nature research paper: An analysis of RNA in a single blood sample can be used to predict pre-eclampsia risk during pregnancy, months before a clinical diagnosis nature.com/articles/s4158…

#EMBLTranscript cell free DNA profiling in pregnancy infers placental contributions in health and disease

A study in Nature Medicine shows that a liquid-biopsy approach that measures DNA-methylation levels in the blood may improve the detection of pregnancies at risk of developing preeclampsia at early stages. go.nature.com/45HyMn0

Delighted to share our work published in Nature Communications exploring cell type signatures in cell free DNA sequencing data. A big thanks to many great collaborators Center for Human Genetics (KU Leuven - UZ Leuven), KU Leuven, and Vall d’Hebron Institute of Oncology (VHIO). nature.com/articles/s4146…

We've mapped the placental responses to infections that cause pregnancy complications for the first time!🤰 Check out how we used single-cell genomics🧬 to uncover the human placental mechanisms to fight Listeriosis🧫, Malaria🦟, and Toxoplasmosis🦠.

We have a new 'Dr. House' in the house! PhD researcher Benjamin Huremagic participated in the #undiagnosedhackathon2024. Together with a bioinformatician from UAntwerpen solving a case in only 2 hours: nieuwsblad.be/cnt/dmf2024060… KU Leuven Nieuwsblad.be Joris Vermeesch

The New York Times recently had an article on IVF and embryo selection which I think buries a few important ledes about these products ...