Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Autor: Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O. B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S. Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell-Luria

Publikováno v: Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)

Abstract Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wi

Externí odkaz: https://doaj.org/article/29fbe7d26d88463789f004c8908aa4a7

SIRT1 activation by Taurine: in vitro evaluation, molecular docking and molecular dynamics simulation studies

Autor: KP, Arya Devi, Shimoga Janakirama, Aditya Rao, Martin, Asha

Publikováno v: In The Journal of Nutritional Biochemistry April 2022 102

Receptor based virtual screening of potential novel inhibitors of tigar [TP53 (tumour protein 53)-induced glycolysis and apoptosis regulator

Autor: Poyya, Jagadeesha, Kumar, D. Jagadeesha, Nagendra, H.G., Dinesh, B., Aditya Rao, S.J., Joshi, Chandrashekhar G.

Publikováno v: In Medical Hypotheses November 2021 156

Facile synthesis of some 5-(3-substituted-thiophene)-pyrimidine derivatives and their pharmacological and computational studies

Autor: S. H. Sukanya, Talavara Venkatesh, S.J. Aditya Rao, N. Shivakumara, Muthipeedika Nibin Joy

Publikováno v: Chimica Techno Acta, Vol 8, Iss 4 (2021)

A series of 5-(3-substituted-thiophene)-pyrimidine derivatives (3a-d) were synthesized via Knoevenagel condensation reaction in aq. ethanol using H2O2:HCl as a catalyst. Their pharmacological effects were evaluated. Analytical and spectroscopic metho

Externí odkaz: https://doaj.org/article/0a456b5f39da4be392492e65e8993fcb

Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks

Autor: Aditya Rao, Saipradeep VG, Thomas Joseph, Sujatha Kotte, Naveen Sivadasan, Rajgopal Srinivasan

Publikováno v: BMC Medical Genomics, Vol 11, Iss 1, Pp 1-12 (2018)

Abstract Background One of the major goals of genomic medicine is the identification of causal genomic variants in a patient and their relation to the observed clinical phenotypes. Prioritizing the genomic variants by considering only the genotype in

Externí odkaz: https://doaj.org/article/2f226c2edccf47bc8554e5da314add54