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Your search keyword '"Haghighi, Alireza"' showing total 2 results
Start Over Author "Haghighi, Alireza" Publisher escholarship, university of california
2 results on '"Haghighi, Alireza"'

1. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.

Author

Jang, Min, Patel, Parth, Pereira, Alexandre, Willcox, Jon, Haghighi, Alireza, Tai, Angela, Ito, Kaoru, Morton, Sarah, Gorham, Joshua, McKean, David, DePalma, Steven, Bernstein, Daniel, Brueckner, Martina, Chung, Wendy, Giardini, Alessandro, Goldmuntz, Elizabeth, Kaltman, Jonathan, Kim, Richard, Newburger, Jane, Shen, Yufeng, Tristani-Firouzi, Martin, Gelb, Bruce, Porter, George, Seidman, Christine, Seidman, Jonathan, and Srivastava, Deepak

Subjects
RNA splicing, algorithms, alleles, child, humans, Child, Humans, RNA, Heart Defects, Congenital, Mutation, RNA Splicing, Gene Frequency, RNA Splicing Factors, Repressor Proteins
Abstract

BACKGROUND: Known genetic causes of congenital heart disease (CHD) explain

Published
2023

2. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Author

Haghighi, Alireza, Krier, Joel B, Toth-Petroczy, Agnes, Cassa, Christopher A, Frank, Natasha Y, Carmichael, Nikkola, Fieg, Elizabeth, Bjonnes, Andrew, Mohanty, Anwoy, Briere, Lauren C, Lincoln, Sharyn, Lucia, Stephanie, Gupta, Vandana A, Söylemez, Onuralp, Sutti, Sheila, Kooshesh, Kameron, Qiu, Haiyan, Fay, Christopher J, Perroni, Victoria, Valerius, Jamie, Hanna, Meredith, Frank, Alexander, Ouahed, Jodie, Snapper, Scott B, Pantazi, Angeliki, Chopra, Sameer S, Leshchiner, Ignaty, Stitziel, Nathan O, Feldweg, Anna, Mannstadt, Michael, Loscalzo, Joseph, Sweetser, David A, Liao, Eric, Stoler, Joan M, Nowak, Catherine B, Sanchez-Lara, Pedro A, Klein, Ophir D, Perry, Hazel, Patsopoulos, Nikolaos A, Raychaudhuri, Soumya, Goessling, Wolfram, Green, Robert C, Seidman, Christine E, MacRae, Calum A, Sunyaev, Shamil R, Maas, Richard L, Vuzman, Dana, and Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM)

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Biotechnology, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine, Medical biotechnology
Abstract

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe an integrated clinical diagnostic and research program using whole-exome and whole-genome sequencing (WES/WGS) for Mendelian disease gene discovery. This program employs specific case ascertainment parameters, a WES/WGS computational analysis pipeline that is optimized for Mendelian disease gene discovery with variant callers tuned to specific inheritance modes, an interdisciplinary crowdsourcing strategy for genomic sequence analysis, matchmaking for additional cases, and integration of the findings regarding gene causality with the clinical management plan. The interdisciplinary gene discovery team includes clinical, computational, and experimental biomedical specialists who interact to identify the genetic etiology of the disease, and when so warranted, to devise improved or novel treatments for affected patients. This program effectively integrates the clinical and research missions of an academic medical center and affords both diagnostic and therapeutic options for patients suffering from genetic disease. It may therefore be germane to other academic medical institutions engaged in implementing genomic medicine programs.

Published
2018

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