M
Miguel Almalvez
Researcher at University of California, Los Angeles
Publications - 5
Citations - 152
Miguel Almalvez is an academic researcher from University of California, Los Angeles. The author has contributed to research in topics: Exome sequencing & Central nervous system. The author has an hindex of 3, co-authored 3 publications receiving 105 citations. Previous affiliations of Miguel Almalvez include National Institutes of Health.
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Journal ArticleDOI
Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis
Hayk Barseghyan,Wilson L Tang,Richard T. Wang,Miguel Almalvez,Eva E. Segura,Matthew S. Bramble,Allen Lipson,Emilie D. Douine,Hane Lee,Emmanuèle Délot,Stanley F. Nelson,Eric Vilain +11 more
TL;DR: The ability of NGM technology to detect pathogenic structural variants otherwise missed by PCR-based techniques or chromosomal microarrays is showed, indicating NGM is poised to become a new tool in the clinical genetic diagnostic strategy and research due to its ability to sensitively identify large genomic variations.
Journal ArticleDOI
Long-read single-molecule maps of the functional methylome.
Hila Sharim,Assaf Grunwald,Tslil Gabrieli,Yael Michaeli,Sapir Margalit,Dmitry Torchinsky,Rani Arielly,Gil Nifker,Matyas Juhasz,Felix Gularek,Miguel Almalvez,Brandon Dufault,Sreetama Sen Chandra,Alexander Liu,Surajit Bhattacharya,Yi-Wen Chen,Eric Vilain,Kathryn R. Wagner,Jonathan Pevsner,Jeff Reifenberger,Ernest T. Lam,Alex Hastie,Han Cao,Hayk Barseghyan,Elmar Weinhold,Yuval Ebenstein +25 more
TL;DR: The method provides kilobase pair–scale genomic methylation patterns comparable to whole-genome bisulfite sequencing (WGBS) along genes and regulatory elements and allows for methylation variation calling and analysis of large structural aberrations such as pathogenic macrosatellite arrays not accessible to single-cell second-generation sequencing.
Journal ArticleDOI
Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model
Hayk Barseghyan,Hayk Barseghyan,Aleisha Symon,Mariam Zadikyan,Miguel Almalvez,Miguel Almalvez,Eva E. Segura,Ascia Eskin,Matthew S. Bramble,Matthew S. Bramble,Valerie A. Arboleda,Ruth M. Baxter,Stanley F. Nelson,Emmanuèle Délot,Emmanuèle Délot,Vincent R. Harley,Eric Vilain,Eric Vilain +17 more
TL;DR: The use of a DSD-specific animal model improves variant interpretation by correlating human sequence variants with transcriptome variation.
Posted ContentDOI
Optical Genome Mapping Identifies a Novel Pediatric Embryonal Tumor Subtype with a ZNF532-NUTM1 Fusion
Miriam Bornhorst,Anthony Eze,Sudeepa Bhattacharya,Eileen M. Putnam,M. Isabel Almira-Suarez,C. Rossi,Madhuri Kambhampati,Miguel Almalvez,Jeffrey Turner,John S. Myseros,Eric Vilain,Roger J. Packer,Javad Nazarian,Brian N. Rood,Hayk Barseghyan +14 more
TL;DR: The NUTM-rearrangement appears to define a novel subgroup of pediatric central nervous system embryonal tumors with rhabdoid/epithelioid features that may have a unique response to treatment.
Journal ArticleDOI
Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion
Miriam Bornhorst,Augustine Eze,Surajit Bhattacharya,Ethan Putnam,M. Isabel Almira-Suarez,Christopher T. Rossi,Madhuri Kambhampati,Miguel Almalvez,Mariam Barseghyan,David Dotson,Joyce T. Turner,John S. Myseros,Eric Vilain,Roger J. Packer,Javad Nazarian,Brian N. Rood,Hayk Barseghyan +16 more
TL;DR: In this paper , the authors presented a case where optical genome mapping identified a ZNF532::NUTM1 fusion in a patient with a unique tumor best characterized histologically as a central nervous system embryonal tumor with rhabdoid features.