Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

Autor: Stephanie U. Greer, Jacquelin Botello, Donna Hongo, Brynn Levy, Premal Shah, Matthew Rabinowitz, Danny E. Miller, Kate Im, Akash Kumar

Publikováno v: Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-11 (2023)

Abstract Background Diagnosis of rare genetic diseases can be a long, expensive and complex process, involving an array of tests in the hope of obtaining an actionable result. Long-read sequencing platforms offer the opportunity to make definitive mo

Externí odkaz: https://doaj.org/article/e6f7c74520a941a0857be3d702c02e98

P333: Polygenic risk scores improve 10-year risk prediction of coronary artery disease in individuals at borderline and intermediate clinical risk

Autor: Placede Tshiaba, Dariusz Ratman, Jiayi Sun, Tate Tunstall, Robert Maier, Premal Shah, Matthew Rabinowitz, Akash Kumar, Kate Im

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100361- (2023)

Externí odkaz: https://doaj.org/article/bca8db8f638c475abebe357adb10d18f

P659: Whole-genome sequencing as a first assay has the potential to shorten diagnosis time for neurodevelopmental disorders

Autor: Kate Im, Pauline Ng, Premal Shah, Matthew Rabinowitz, Brynn Levy, Akash Kumar

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100724- (2023)

Externí odkaz: https://doaj.org/article/c7fe676bdceb49bf8134c0085d228b7f

Cross-ancestry polygenic risk score for breast cancer risk assessment

Autor: Placede Tshiaba, Jiayi Sun, Dariusz Ratman, Tate Tunstall, Brynn Levy, Premal Shah, Matthew Rabinowitz, Akash Kumar, Kate Im

Publikováno v: Journal of Clinical Oncology. 40:10540-10540

10540 Background: Breast cancer (BC) risk is influenced by many common variants with small effects. Polygenic risk scores (PRS) weight these variants based on genome-wide association studies (GWAS) and aggregate them into a single measure. PRS has pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b8950f0e1a8e3aed9f3432d4b379875f
https://doi.org/10.1200/jco.2022.40.16_suppl.10540

Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape

Autor: Michael Dean, Kate Im, Stefania Pittaluga, Tito Fojo, Lyn Mickley Huff, Maureen Edgerly, Thomas Litman, Susan E. Bates, Maria Merino, Jaydira Del Rivero

Publikováno v: BMC Medical Genomics
Fojo, T, Huff, L, Litman, T, Im, K, Edgerly, M, del Rivero, J, Pittaluga, S, Merino, M, Bates, S E & Dean, M 2020, ' Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape ', BMC Medical Genomics, vol. 13, 165 . https://doi.org/10.1186/s12920-020-00809-7
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-15 (2020)

Background Adrenocortical carcinoma (ACC) is a rare, often-aggressive neoplasm of the adrenal cortex, with a 14–17 month median overall survival. We asked whether tumors from patients with advanced or metastatic ACC would offer clues as to putative

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2daf3a17d5815d5fd7fccd3c0212316b
https://pubmed.ncbi.nlm.nih.gov/33148256