SG-ADVISER mtDNA: a web server for mitochondrial DNA annotation with data from 200 samples of a healthy aging cohort

por Rueda, Manuel, Torkamani, Ali
Publicado 2017

Artificial intelligence in clinical and genomic diagnostics

por Dias, Raquel, Torkamani, Ali
Publicado 2019

Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis

por Khattab, Ahmed, Torkamani, Ali
Publicado 2022

Assessment of circulating copy number variant detection for cancer screening

por Molparia, Bhuvan, Nichani, Eshaan, Torkamani, Ali
Publicado 2017

Symptom-driven idiopathic disease gene identification

por Molparia, Bhuvan, Pham, Phillip H., Torkamani, Ali
Publicado 2015

Liquid Biopsies for Cancer: Coming to a Patient near You

por Krishnamurthy, Nithya, Spencer, Emily, Torkamani, Ali, Nicholson, Laura
Publicado 2017

Decoding the transcriptome of calcified atherosclerotic plaque at single-cell resolution

por Alsaigh, Tom, Evans, Doug, Frankel, David, Torkamani, Ali
Publicado 2022

A genome-wide association study of tinnitus reveals shared genetic links to neuropsychiatric disorders

por Bhatt, Ishan Sunilkumar, Wilson, Nicholas, Dias, Raquel, Torkamani, Ali
Publicado 2022

Dose response of running on blood biomarkers of wellness in generally healthy individuals

por Nogal, Bartek, Vinogradova, Svetlana, Jorge, Milena, Torkamani, Ali, Fabian, Paul, Blander, Gil
Publicado 2023

A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection

por Molparia, Bhuvan, Oliveira, Glenn, Wagner, Jennifer L., Spencer, Emily G., Torkamani, Ali
Publicado 2018

Co-Inference of Data Mislabelings Reveals Improved Models in Genomics and Breast Cancer Diagnostics

por Gerber, Susanne, Pospisil, Lukas, Sys, Stanislav, Hewel, Charlotte, Torkamani, Ali, Horenko, Illia
Publicado 2022

Sequence and Structure Signatures of Cancer Mutation Hotspots in Protein Kinases

por Dixit, Anshuman, Yi, Lin, Gowthaman, Ragul, Torkamani, Ali, Schork, Nicholas J., Verkhivker, Gennady M.
Publicado 2009

Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver

por Pham, Phillip H., Shipman, William J., Erikson, Galina A., Schork, Nicholas J., Torkamani, Ali
Publicado 2015

Sensitive, multiplex and direct quantification of RNA sequences using a modified RASL assay

por Larman, H. Benjamin, Scott, Erick R., Wogan, Megan, Oliveira, Glenn, Torkamani, Ali, Schultz, Peter G.
Publicado 2014

Rapid, Reference-Free human genotype imputation with denoising autoencoders

por Dias, Raquel, Evans, Doug, Chen, Shang-Fu, Chen, Kai-Yu, Loguercio, Salvatore, Chan, Leslie, Torkamani, Ali
Publicado 2022

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

por Jones, Marilyn C., Topol, Sarah E., Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G., Torkamani, Ali
Publicado 2017

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

por Wells, Alex, Heckerman, David, Torkamani, Ali, Yin, Li, Sebat, Jonathan, Ren, Bing, Telenti, Amalio, di Iulio, Julia
Publicado 2019

Genotype imputation and variability in polygenic risk score estimation

por Chen, Shang-Fu, Dias, Raquel, Evans, Doug, Salfati, Elias L., Liu, Shuchen, Wineinger, Nathan E., Torkamani, Ali
Publicado 2020

Identification of an N-acetylneuraminic acid-presenting bacteria isolated from a human microbiome

por Han, Zhen, Thuy-Boun, Peter S., Pfeiffer, Wayne, Vartabedian, Vincent F., Torkamani, Ali, Teijaro, John R., Wolan, Dennis W.
Publicado 2021

Genetic structure of community acquired methicillin-resistant Staphylococcus aureus USA300

por Tewhey, Ryan, Cannavino, Christopher R, Leake, John AD, Bansal, Vikas, Topol, Eric J, Torkamani, Ali, Bradley, John S, Schork, Nicholas J
Publicado 2012