Kurolap, Alina Hagin, David Freund, Tal Fishman, Sigal Zunz Henig, Noa Brazowski, Eli Yeshaya, Josepha Naiman, Tova Pras, Elon Ablin, Jacob N
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Published in
Human genetics
The complement system regulator CD55 was initially found to carry the Cromer blood group system antigens, and its complete loss of function was subsequently revealed to cause a severe monogenic gastrointestinal syndrome characterized by protein-losing enteropathy and susceptibility to venous thrombosis. Here we present homozygosity to the CD55 c.59...
Kumuthini, Judit Zick, Brittany Balasopoulou, Angeliki Chalikiopoulou, Constantina Dandara, Collet El-Kamah, Ghada Findley, Laura Katsila, Theodora Li, Rongling Maceda, Ebner Bon
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Published in
Human genetics
Genomic medicine aims to improve health using the individual genomic data of people to inform care. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g., coronary artery disease or breast cancer. Polygenic risk scores (PRS) are subsets of ...
Forni, Diego Sironi, Manuela Cagliani, Rachele
Published in
Human genetics
Type II transmembrane serine proteases (TTSPs) are a family of trypsin-like membrane-anchored serine proteases that play key roles in the regulation of some crucial processes in physiological conditions, including cardiac function, digestion, cellular iron homeostasis, epidermal differentiation, and immune responses. However, some of them, in parti...
Marquet, Céline Heinzinger, Michael Olenyi, Tobias Dallago, Christian Erckert, Kyra Bernhofer, Michael Nechaev, Dmitrii Rost, Burkhard
Published in
Human genetics
The emergence of SARS-CoV-2 variants stressed the demand for tools allowing to interpret the effect of single amino acid variants (SAVs) on protein function. While Deep Mutational Scanning (DMS) sets continue to expand our understanding of the mutational landscape of single proteins, the results continue to challenge analyses. Protein Language Mode...
Katsonis, Panagiotis Wilhelm, Kevin Williams, Amanda Lichtarge, Olivier
Published in
Human genetics
Estimating the effects of variants found in disease driver genes opens the door to personalized therapeutic opportunities. Clinical associations and laboratory experiments can only characterize a tiny fraction of all the available variants, leaving the majority as variants of unknown significance (VUS). In silico methods bridge this gap by providin...
Watson, David S
Published in
Human genetics
High-throughput technologies such as next-generation sequencing allow biologists to observe cell function with unprecedented resolution, but the resulting datasets are too large and complicated for humans to understand without the aid of advanced statistical methods. Machine learning (ML) algorithms, which are designed to automatically find pattern...
Couckuyt, Artuur Seurinck, Ruth Emmaneel, Annelies Quintelier, Katrien Novak, David Van Gassen, Sofie Saeys, Yvan
Published in
Human genetics
Machine learning (ML) algorithms are increasingly being used to help implement clinical decision support systems. In this new field, we define as "translational machine learning", joint efforts and strong communication between data scientists and clinicians help to span the gap between ML and its adoption in the clinic. These collaborations also im...
Ozturk, Kivilcim Carter, Hannah
Published in
Human genetics
Variant interpretation remains a central challenge for precision medicine. Missense variants are particularly difficult to understand as they change only a single amino acid in a protein sequence yet can have large and varied effects on protein activity. Numerous tools have been developed to identify missense variants with putative disease conseque...
Bienfait, Karina Chhibber, Aparna Marshall, Jean-Claude Armstrong, Martin Cox, Charles Shaw, Peter M Paulding, Charles
Published in
Human genetics
Pharmaceutical companies have increasingly utilized genomic data for the selection of drug targets and the development of precision medicine approaches. Most major pharmaceutical companies routinely collect DNA from clinical trial participants and conduct pharmacogenomic (PGx) studies. However, the implementation of PGx studies during clinical deve...
Zhou, Yitian Lauschke, Volker M
Published in
Human genetics
Both safety and efficacy of medical treatment can vary depending on the ethnogeographic background of the patient. One of the reasons underlying this variability is differences in pharmacogenetic polymorphisms in genes involved in drug disposition, as well as in drug targets. Knowledge and appreciation of these differences is thus essential to opti...
