Zobrazeno 1 - 10
of 780
pro vyhledávání: '"P. Krawitz"'
The drift-barrier hypothesis states that random genetic drift constrains the refinement of a phenotype under natural selection. The influence of effective population size and the genome-wide deleterious mutation rate were studied theoretically, and a
Externí odkaz:
http://arxiv.org/abs/2406.09094
Autor:
Wu, Da, Yang, Jingye, Liu, Cong, Hsieh, Tzung-Chien, Marchi, Elaine, Blair, Justin, Krawitz, Peter, Weng, Chunhua, Chung, Wendy, Lyon, Gholson J., Krantz, Ian D., Kalish, Jennifer M., Wang, Kai
Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests and genetic tests, to find a possible answer over a prolonged period of time. Addressing this "diagnostic odyssey" thus h
Externí odkaz:
http://arxiv.org/abs/2312.15320
Autor:
Hellmann, Fabio, Mertes, Silvan, Benouis, Mohamed, Hustinx, Alexander, Hsieh, Tzung-Chien, Conati, Cristina, Krawitz, Peter, André, Elisabeth
In recent years, the increasing availability of personal data has raised concerns regarding privacy and security. One of the critical processes to address these concerns is data anonymization, which aims to protect individual privacy and prevent the
Externí odkaz:
http://arxiv.org/abs/2305.02143
Autor:
Aditya Sakalkale, MB, BCh, BAO (Hons), Colin Chan-Min Choi, BBiomed, MD, GDipSurgAnat, MTrauma, Russel Krawitz, MBCHB, FRACS, Justin M.C. Yeung, BMBS, DM, PG, Dip, Med, FRCSEd (Gen Surg), FRACS
Publikováno v:
Radiology Case Reports, Vol 19, Iss 6, Pp 2395-2401 (2024)
Adrenal hemorrhage (AH) is an uncommon and potentially disastrous affliction that carries an accepted mortality risk of 15%. Variable symptomatology can cause a diagnostic dilemma and may be missed. We present 2 cases of right-sided AH; both cases we
Externí odkaz:
https://doaj.org/article/63b9beb784ca41d48c907c918f1e9be9
Autor:
Ibrahim M. Abdelrazek, Alexej Knaus, Behnam Javanmardi, Peter M. Krawitz, Denise Horn, Ebtesam M. Abdalla, Sheetal Kumar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)
ABSTRACT Background Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature. Here, we report a 2‐ye
Externí odkaz:
https://doaj.org/article/37c3d97dea3d4c728ad97674a95dc55b
Autor:
Hustinx, Alexander, Hellmann, Fabio, Sümer, Ömer, Javanmardi, Behnam, André, Elisabeth, Krawitz, Peter, Hsieh, Tzung-Chien
Publikováno v:
2023 IEEE/CVF Winter Conference on Applications of Computer Vision (WACV)
Rare genetic disorders affect more than 6% of the global population. Reaching a diagnosis is challenging because rare disorders are very diverse. Many disorders have recognizable facial features that are hints for clinicians to diagnose patients. Pre
Externí odkaz:
http://arxiv.org/abs/2211.06764
Autor:
Sümer, Ömer, Hellmann, Fabio, Hustinx, Alexander, Hsieh, Tzung-Chien, André, Elisabeth, Krawitz, Peter
Computer vision-based methods have valuable use cases in precision medicine, and recognizing facial phenotypes of genetic disorders is one of them. Many genetic disorders are known to affect faces' visual appearance and geometry. Automated classifica
Externí odkaz:
http://arxiv.org/abs/2210.12705
Autor:
Rodrigo Zúñiga Mouret, Jordyn P. Greenbaum, Hannah M. Doll, Eliza M. Brody, Emma L. Iacobucci, Nicholas C. Roland, Roy C. Simamora, Ivan Ruiz, Rory Seymour, Leanne Ludwick, Jacob A. Krawitz, Antonia H. Groneberg, João C. Marques, Alexandre Laborde, Gokul Rajan, Filippo Del Bene, Michael B. Orger, Roshan A. Jain
Publikováno v:
iScience, Vol 27, Iss 4, Pp 109455- (2024)
Summary: Animals constantly integrate sensory information with prior experience to select behavioral responses appropriate to the current situation. Genetic factors supporting this behavioral flexibility are often disrupted in neuropsychiatric condit
Externí odkaz:
https://doaj.org/article/f5eac5df10074f25b8da635d7059a87c
Autor:
Sabrina Katrin Henne, Rana Aldisi, Sugirthan Sivalingam, Lara Maleen Hochfeld, Oleg Borisov, Peter Michael Krawitz, Carlo Maj, Markus Maria Nöthen, Stefanie Heilmann-Heimbach
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Male-pattern hair loss (MPHL) is common and highly heritable. While genome-wide association studies (GWAS) have generated insights into the contribution of common variants to MPHL etiology, the relevance of rare variants remains unclear. To
Externí odkaz:
https://doaj.org/article/a171b6aa33ba46fa9e50d5a3280cd103
Autor:
Rana Aldisi, Emadeldin Hassanin, Sugirthan Sivalingam, Andreas Buness, Hannah Klinkhammer, Andreas Mayr, Holger Fröhlich, Peter Krawitz, Carlo Maj
Publikováno v:
BMC Genomic Data, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Background A relevant part of the genetic architecture of complex traits is still unknown; despite the discovery of many disease-associated common variants. Polygenic risk score (PRS) models are based on the evaluation of the additive effect
Externí odkaz:
https://doaj.org/article/54759c07922f4167a261203d0f68ded4