U
Urvashi Surti
Researcher at University of Pittsburgh
Publications - 210
Citations - 12155
Urvashi Surti is an academic researcher from University of Pittsburgh. The author has contributed to research in topics: Comparative genomic hybridization & Genome. The author has an hindex of 53, co-authored 210 publications receiving 10856 citations. Previous affiliations of Urvashi Surti include Howard Hughes Medical Institute & National Institutes of Health.
Papers
More filters
Journal ArticleDOI
Resolving the complexity of the human genome using single-molecule sequencing
Mark Chaisson,John Huddleston,Megan Y. Dennis,Peter H. Sudmant,Maika Malig,Fereydoun Hormozdiari,Francesca Antonacci,Urvashi Surti,Richard Sandstrom,Matthew Boitano,Jane M. Landolin,John A. Stamatoyannopoulos,Michael W. Hunkapiller,Jonas Korlach,Evan E. Eichler +14 more
TL;DR: A greater complexity of the human genome in the form of variation of longer and more complex repetitive DNA that can now be largely resolved with the application of this longer-read sequencing technology is suggested.
Journal ArticleDOI
Large-scale genotyping of complex DNA
Giulia C. Kennedy,Hajime Matsuzaki,Shoulian Dong,Wei-Min Liu,Jing Huang,Guoying Liu,Xing Su,Xing Su,Manqiu Cao,Wenwei Chen,Jane Zhang,Weiwei Liu,Geoffrey Yang,Xiaojun Di,Thomas B. Ryder,Zhijun He,Urvashi Surti,Michael S. Phillips,Michael T Boyce-Jacino,Stephen P. A. Fodor,Keith W. Jones +20 more
TL;DR: This work rapidly genotyped 14,548 SNPs in three different human populations and identified a subset of them with significant allele frequency differences between groups and determined the ancestral allele for 8,386 SNPs by genotyping chimpanzees and gorilla DNA.
Journal ArticleDOI
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan,Jill A. Rosenfeld,Gregory M. Cooper,Francesca Antonacci,Priscillia Siswara,Andy Itsara,Laura Vives,Tom Walsh,Shane McCarthy,Carl Baker,Heather C Mefford,Jeffrey M. Kidd,Sharon R. Browning,Brian L. Browning,Diane E. Dickel,Deborah L. Levy,Blake C. Ballif,Kathryn Platky,Darren Farber,Gordon C. Gowans,Jessica J. Wetherbee,Alexander Asamoah,David D. Weaver,Paul R. Mark,Jennifer Dickerson,Bhuwan P. Garg,Sara Ellingwood,Rosemarie Smith,Valerie Banks,Wendy E. Smith,Marie T. McDonald,Joe J. Hoo,Beatrice N. French,Cindy Hudson,John P. Johnson,Jillian R Ozmore,John B. Moeschler,Urvashi Surti,Luis F. Escobar,Dima El-Khechen,Jerome L. Gorski,Jennifer Kussmann,Bonnie A. Salbert,Yves Lacassie,Alisha Biser,Donna M. McDonald-McGinn,Elaine H. Zackai,Matthew A. Deardorff,Tamim H. Shaikh,Eric Haan,Eric Haan,Kathryn Friend,Marco Fichera,Corrado Romano,Jozef Gecz,Jozef Gecz,Lynn E. DeLisi,Lynn E. DeLisi,Jonathan Sebat,Mary Claire King,Lisa G. Shaffer,Evan E. Eichler +61 more
TL;DR: The data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications.
Journal ArticleDOI
Telomere-to-telomere assembly of a complete human X chromosome
Karen H. Miga,Sergey Koren,Arang Rhie,Mitchell R. Vollger,Ariel Gershman,Andrey Bzikadze,Shelise Brooks,Edmund Howe,David Porubsky,Glennis A. Logsdon,Valerie A. Schneider,Tamara A. Potapova,Jonathan Wood,William Chow,Joel Armstrong,Jeanne Fredrickson,Evgenia Pak,Kristof Tigyi,Milinn Kremitzki,Christopher Markovic,Valerie Maduro,Amalia Dutra,Gerard G. Bouffard,Alexander M. Chang,Nancy F. Hansen,Amy B. Wilfert,Françoise Thibaud-Nissen,Anthony D. Schmitt,Jon Matthew Belton,Siddarth Selvaraj,Megan Y. Dennis,Daniela C. Soto,Ruta Sahasrabudhe,Gulhan Kaya,Josh Quick,Nicholas J. Loman,Nadine Holmes,Matthew Loose,Urvashi Surti,Rosa Ana Risques,Tina A. Graves Lindsay,Robert S. Fulton,Ira M. Hall,Benedict Paten,Kerstin Howe,Winston Timp,Alice Young,James C. Mullikin,Pavel A. Pevzner,Jennifer L. Gerton,Beth A. Sullivan,Evan E. Eichler,Adam M. Phillippy +52 more
TL;DR: High-coverage, ultra-long-read nanopore sequencing is used to create a new human genome assembly that improves on the coverage and accuracy of the current reference (GRCh38) and includes the gap-free, telomere-to-telomere sequence of the X chromosome.
Journal ArticleDOI
Content and organization of the human Ig VH locus: definition of three new VH families and linkage to the Ig CH locus.
Jeffrey E. Berman,S. J. Mellis,Roberta R. Pollock,Cassandra L. Smith,Heikyung Suh,B. Heinke,C. Kowal,Urvashi Surti,Leonard Chess,C. R. Cantor +9 more
TL;DR: The first report of the physical linkage of the variable and constant loci of a human Ig gene family is provided by demonstrating that the most proximal known human VH segments lie within 100 kb of the constant region locus.