M
Maeve O'Huallachain
Researcher at Hoffmann-La Roche
Publications - 10
Citations - 1917
Maeve O'Huallachain is an academic researcher from Hoffmann-La Roche. The author has contributed to research in topics: Copy-number variation & Genome. The author has an hindex of 6, co-authored 10 publications receiving 1782 citations. Previous affiliations of Maeve O'Huallachain include Translational Genomics Research Institute & Stanford University.
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Journal ArticleDOI
Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes
Rui Chen,George I. Mias,Jennifer Li-Pook-Than,Lihua Jiang,Hugo Y. K. Lam,Rong Chen,Elana Miriami,Konrad J. Karczewski,Manoj Hariharan,Frederick E. Dewey,Yong Cheng,Michael J. Clark,Hogune Im,Lukas Habegger,Suganthi Balasubramanian,Maeve O'Huallachain,Joel T. Dudley,Sara Hillenmeyer,Rajini R Haraksingh,Donald Sharon,Ghia Euskirchen,Phil Lacroute,Keith Bettinger,Alan P. Boyle,Maya Kasowski,Fabian Grubert,Scott Seki,Marco Garcia,Michelle Whirl-Carrillo,Mercedes Gallardo,Maria A. Blasco,Peter L. Greenberg,Phyllis Snyder,Teri E. Klein,Russ B. Altman,Atul J. Butte,Euan A. Ashley,Mark Gerstein,Kari C. Nadeau,Hua Tang,Michael Snyder +40 more
TL;DR: This study demonstrates that longitudinal iPOP can be used to interpret healthy and diseased states by connecting genomic information with additional dynamic omics activity and reveals extensive heteroallelic changes during healthy and disease states and an unexpected RNA editing mechanism.
Journal ArticleDOI
Performance comparison of whole-genome sequencing platforms
Hugo Y. K. Lam,Michael J. Clark,Rui Chen,Rong Chen,Georges Natsoulis,Maeve O'Huallachain,Frederick E. Dewey,Lukas Habegger,Euan A. Ashley,Mark Gerstein,Atul J. Butte,Hanlee P. Ji,Michael Snyder +12 more
TL;DR: This work sequenced the genome of an individual with both Illumina and Complete Genomics to a high average coverage, and compared their performance with respect to sequence coverage and calling of single-nucleotide variants, insertions and deletions.
Journal ArticleDOI
The Complete Genome Sequence of Roseobacter denitrificans Reveals a Mixotrophic Rather than Photosynthetic Metabolism
Wesley D. Swingley,Sumedha Sadekar,Stephen D. Mastrian,Heather J. Matthies,Jicheng Hao,Hector Ramos,Chaitanya R. Acharya,Amber L. Conrad,Heather L. Taylor,Liza C. Dejesa,Maulik K. Shah,Maeve O'Huallachain,Michael T. Lince,Robert E. Blankenship,J. Thomas Beatty,Jeffrey W. Touchman,Jeffrey W. Touchman +16 more
TL;DR: The complete genomic sequence and feature analysis of the AAP Roseobacter denitrificans are presented, which reveal clues to its physiology and describe the potential importance of mixotrophic rather than autotrophic CO2 fixation pathways in these organisms.
Journal ArticleDOI
Extensive genetic variation in somatic human tissues
Maeve O'Huallachain,Konrad J. Karczewski,Sherman M. Weissman,Alexander E. Urban,Michael Snyder +4 more
TL;DR: Analysis of copy number variation by high-resolution array-comparative genomic hybridization in diverse tissues from six unrelated subjects reveals a significant number of intraindividual genomic changes between tissues.
Journal ArticleDOI
Detecting and annotating genetic variations using the HugeSeq pipeline
Hugo Y. K. Lam,Cuiping Pan,Michael J. Clark,Phil Lacroute,Rui Chen,Rajini R Haraksingh,Maeve O'Huallachain,Mark Gerstein,Jeffrey M. Kidd,Carlos Bustamante,Michael Snyder +10 more
TL;DR: This research presents a meta-modelling architecture that automates the very labor-intensive and therefore time-heavy and expensive and therefore expensive and expensive process of designing and implementing nanofiltration systems.