A
Andrew Heiberg
Researcher at University of California, San Diego
Publications - 5
Citations - 1134
Andrew Heiberg is an academic researcher from University of California, San Diego. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 4, co-authored 5 publications receiving 1028 citations. Previous affiliations of Andrew Heiberg include Howard Hughes Medical Institute.
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Journal ArticleDOI
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Jeong Ho Lee,My N. Huynh,Jennifer L. Silhavy,Jennifer L. Silhavy,Sangwoo Kim,Tracy Dixon-Salazar,Tracy Dixon-Salazar,Andrew Heiberg,Andrew Heiberg,Eric Scott,Eric Scott,Vineet Bafna,Kiley J. Hill,Kiley J. Hill,Adrienne Collazo,Adrienne Collazo,Vincent Funari,Vincent Funari,Carsten Russ,Stacey Gabriel,Gary W. Mathern,Joseph G. Gleeson,Joseph G. Gleeson +22 more
TL;DR: In this paper, exome sequencing and mass spectrometry analysis in paired brain-blood samples from individuals with HME (n = 20 cases) identified de novo somatic mutations in 30% of affected individuals in the PIK3CA, AKT3 and MTOR genes.
Journal ArticleDOI
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino,Ali G. Fenstermaker,Maha S. Zaki,Matan Hofree,Jennifer L. Silhavy,Andrew Heiberg,Mostafa Abdellateef,Basak Rosti,Eric Scott,Lobna Mansour,Amira Masri,Hülya Kayserili,Jumana Y. Al-Aama,Ghada M H Abdel-Salam,Ariana Karminejad,Majdi Kara,Bülent Kara,Bita Bozorgmehri,Tawfeg Ben-Omran,Faezeh Mojahedi,Iman G. Mahmoud,Naima Bouslam,Ahmed Bouhouche,Ali Benomar,Sylvain Hanein,Laure Raymond,Sylvie Forlani,Massimo Mascaro,Laila Selim,Nabil Shehata,Nasir A. S. Al-Allawi,Parayil Sankaran Bindu,Matloob Azam,Murat Gunel,Ahmet Okay Caglayan,Kaya Bilguvar,Aslıhan Tolun,Mahmoud Y. Issa,Jana Schroth,Emily Spencer,Rasim Ozgur Rosti,Naiara Akizu,Keith K. Vaux,Anide Johansen,Alice A. Koh,Hisham Megahed,Alexandra Durr,Alexis Brice,Giovanni Stevanin,S. Gabriel,Trey Ideker,Joseph G. Gleeson +51 more
TL;DR: Using whole-exome sequencing in combination with network analysis, 18 previously unknown putative HSP genes are identified and validated and link HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.
Journal ArticleDOI
Using Genome Query Language to uncover genetic variation.
TL;DR: This work defines and implements a Genome Query Language (GQL) that allows for the rapid collection of evidence needed for calling variants and frees all variant detection tools from the data intensive evidence collection and focuses on statistical inference.
Journal ArticleDOI
Abstractions for genomics
Vineet Bafna,Alin Deutsch,Andrew Heiberg,Christos Kozanitis,Lucila Ohno-Machado,George Varghese +5 more
TL;DR: Large genomic databases with interactive access require new, layered abstractions, including separating "evidence" from "inference" and so on.
Proceedings Article
Using Bayesian Networks to Model a Poker Player
TL;DR: The proposed network mitigates this bias via the expectation maximization algorithm and a probabilistic characterization of the hidden variables that generate observations.