Recommendations for Clinical Molecular Laboratories for Detection of Homologous Recombination Deficiency in Cancer: A Joint Consensus Recommendation of the Association of Molecular Pathology, Association of Cancer Care Centers, and College of American Pathologists

See the full paper here: annalsofoncology.org/article/S0923-… We recommend, based on evidence of mortality benefit of interventions, restriction of germline breast cancer panel testing to 7 genes. We must challenge the "more is better" model of gene inclusion on panels that NGS has driven.

Our July 2025 issue is now live: go.nature.com/3Txl0PM Topics include: structural variation in the human genome; cytoplasmic mRNA decay; the mammalian segmentation clock; genetic models and genomic studies of cancer metastasis

Em fa especial il·lusió que el 10è joc que publiquem a Team Snafu & SDT sigui un joc meu sobre un episodi de la història de l'Equador. A can @snafu_store continuem recuperant llocs i moments oblidats. Un joc que va començar com un divertimento però que ha anat guanyant densitat. (1/2)

In collaboration with Wellcome Connecting Science, we have a MAVE course coming up in November! Multiplex assays of variant effects (MAVEs): Approaches, Analysis, and Interpretation 🗓️When: November 23rd–28th, 2025 🌏Where: Hinxton, UK 🧵1/4

Long- and short-read sequencing reveal four key telomere repeat changes shaping cancer genome evolution, offering a new model to study complex repetitive elements in somatic genomes. Uncover the research behind it: cell.com/cell-genomics/…

Evolution of splicing model architectures go.nature.com/3I7QBoS Figure from our recent Review: From computational models of the splicing code to regulatory mechanisms and therapeutic implications (free to read here: rdcu.be/dVNV4)

ESPECIALIDAD | Continúa el proceso para la creación de las especialidades de Genética con la consulta pública para el proyecto de los Reales Decretos de la especialidad de Genética de Laboratorio y Genética Médica 🧬

DRUG TARGETS: homologous recombination deficiency is a biomarker for PARP inhibition; however, available assays take disparate approaches; a new consensus piece from Association of Molecular Pathology offers recommendations for laboratory implementation. jmdjournal.org/article/S1525-…

The Somatic Mosaicism across Human Tissues Network | Nature nature.com/articles/s4158…

The role of untranslated region variants in Mendelian disease: a review #RareDisease #Genetics #Review #UTR nature.com/articles/s4143…

The role of untranslated region variants in Mendelian disease: a review | European Journal of Human Genetics nature.com/articles/s4143…

Whole-genome ancestry of an Old Kingdom Egyptian | Nature nature.com/articles/s4158…

New study Nature Genetics identifies first genetic risk factor for long COVID. They compared DNA from 16,000 patients vs 1.9 million controls across 24 countries. Here are my key takeaways 👇

Final version of nature paper on mutational signatures for colorectal cancer. nature.com/articles/s4158… Important implications for early onset colorectal cancer. Check out paper or video below. Thanks as always to Cancer Grand Challenges + team Wellcome Sanger Institute and Ludmil, Marcos UC San Diego

Geographic and age variations in mutational processes in colorectal cancer | Nature nature.com/articles/s4158…

La violencia en las escuelas requiere respuestas colectivas para construir entornos protectores. Sin acuerdos ni participación activa, cualquier esfuerzo será inútil. Es urgente un compromiso colectivo por escuelas como espacios de convivencia. youtube.com/watch?v=lor_Dt…

Hereditary hemochromatosis related iron overload accelerates age-related cardiac hypertrophy in a mouse model. Francesca Cogo #JournalClub nature.com/articles/s4159…

We are calling for papers for a special issue of EJHG exploring the role of DNA in public health screening. We welcome: -Original research -Reviews -Commentaries Deadline: December 31st, 2025 Submit via: nature.com/collections/dj… European Society of Human Genetics (ESHG)

Discovery of a common genetic mutation that enhances the response to cancer immunotherapy pnas.org/doi/full/10.10…