Urvashi Surti
A5054573446- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Gestational Trophoblastic Disease Studies
- Genetic Syndromes and Imprinting
- Chromosomal and Genetic Variations
- Uterine Myomas and Treatments
- Congenital heart defects research
- Chronic Lymphocytic Leukemia Research
- Lymphoma Diagnosis and Treatment
- Sarcoma Diagnosis and Treatment
- Genomics and Phylogenetic Studies
- Renal and related cancers
- Tumors and Oncological Cases
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Acute Myeloid Leukemia Research
- Genomics and Rare Diseases
- Genomics and Chromatin Dynamics
- Viral-associated cancers and disorders
- Ovarian cancer diagnosis and treatment
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Fetal and Pediatric Neurological Disorders
- Reproductive Biology and Fertility
City University of Seattle
2014-2023
Baylor College of Medicine
2018-2023
Philadelphia University
2018-2023
Buffalo Medical Group
2018-2023
University of Minnesota Rochester
2018-2023
University of Pittsburgh
2013-2022
Magee-Womens Hospital
2011-2021
University of Pittsburgh Medical Center
2008-2021
Magee-Womens Research Institute
2007-2021
University of Washington
2020
Since its initial release in 2000, the human reference genome has covered only euchromatic fraction of genome, leaving important heterochromatic regions unfinished. Addressing remaining 8% Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion–base pair sequence T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors prior references, and introduces nearly 200 million base pairs containing 1956 gene predictions, 99 which are predicted to be...
After two decades of improvements, the current human reference genome (GRCh38) is most accurate and complete vertebrate ever produced. However, no single chromosome has been finished end to end, hundreds unresolved gaps persist1,2. Here we present a assembly that surpasses continuity GRCh382, along with gapless, telomere-to-telomere chromosome. This was enabled by high-coverage, ultra-long-read nanopore sequencing hydatidiform mole CHM13 genome, combined complementary technologies for...
Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental for which recent evidence indicates an important etiologic role rare copy number variants (CNVs) suggests common genetic mechanisms. We performed cytogenomic array analysis in a discovery sample of patients with referred clinical testing. detected recurrent 1.4 Mb deletion at 17q12, harbors HNF1B, the gene responsible renal cysts diabetes syndrome (RCAD), 18/15,749 patients, including several ASD, but 0/4,519 controls....
Abstract The complete assembly of each human chromosome is essential for understanding biology and evolution 1,2 . Here we use complementary long-read sequencing technologies to the linear 8. Our resolves sequence five previously long-standing gaps, including a 2.08-Mb centromeric α-satellite array, 644-kb copy number polymorphism in β-defensin gene cluster that important disease risk, an 863-kb variable tandem repeat at 8q21.2 can function as neocentromere. We show array generally...
Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior age 40. POF presents as hypergonadotropic hypogonadism can be part syndrome or occur in isolation. Here, we studied 3 sisters amenorrhea, hypothyroidism, hypogonadism. The were born parents who are first cousins. SNP analysis whole-exome sequencing revealed the presence pathogenic variant...
Abstract In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of human genome, which revolutionized field genomics. While these updates that followed effectively covered euchromatic fraction heterochromatin many other complex regions were left unfinished or erroneous. Addressing this remaining 8% Telomere-to-Telomere (T2T) has finished first truly complete 3.055 billion base pair (bp) sequence a representing largest improvement to...
Abstract The molecular hallmark of angiomatoid fibrous histiocytoma (AFH) is not well defined, with only six cases specific gene fusions reported to date, consisting either FUS‐ATF1 or EWSR1‐ATF1 . To address this, we investigated the presence , and highly related EWSR1‐CREB1 fusion in a group nine AFHs. All were subjected RT‐PCR for FISH EWSR1 FUS rearrangements was performed most cases. Transcriptional profiling three tumors their expression compared five clear cell sarcomas expressing...
Variation in genome structure is an important source of human genetic polymorphism: It affects a large proportion the and has variety phenotypic consequences relevant to health disease. In spite this, variation incompletely characterized due lack approaches for discovering broad range structural variants global, comprehensive fashion. We addressed this gap with Optical Mapping, high-throughput, high-resolution single-molecule system studying structure. used Mapping create genome-wide...
Uterine leiomyomas (uterine fibroids) arise from smooth muscle tissue in the majority of women by age 45. It is common for these clonal tumors to develop multiple locations within uterus, leading a variety symptoms such as pelvic pain, abnormal uterine bleeding, and infertility. We performed whole exome sequencing on genomic DNA five pairs corresponding normal myometrium determine genetic variations unique leiomyomas. Whole revealed that gene encoding transcription factor MED12 (Mediator...
A complete reference assembly is essential for accurately interpreting individual genomes and associating variation with phenotypes. While the current human genome sequence of very high quality, gaps misassemblies remain due to biological technical complexities. Large repetitive sequences complex allelic diversity are two main drivers error. Although increasing length reads library fragments can improve assembly, even longest available do not resolve all regions. In order overcome issue...
Uterine leiomyomas are benign tumors that can cause pain, bleeding, and infertility in some women. Mediator complex subunit 12 (MED12) exon 2 variants associated with uterine leiomyomas; however, the causality of MED12 variants, their genetic mode action, role genomic instability have not been established. Here, we generated a mouse model conditionally expresses Med12 missense variant (c.131G>A) uterus demonstrated this alteration alone promotes leiomyoma formation hyperplasia both WT mice...
Abstract The sequence and assembly of human genomes using long‐read sequencing technologies has revolutionized our understanding structural variation genome organization. We compared the accuracy, continuity, gene annotation assemblies generated from either high‐fidelity (HiFi) or continuous (CLR) datasets same complete hydatidiform mole genome. find that HiFi data assemble an additional 10% duplicated regions more accurately represent structure tandem repeats, as validated with orthogonal...