Diane A. Flasch
A5022741405- Cancer Genomics and Diagnostics
- Chromosomal and Genetic Variations
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Acute Lymphoblastic Leukemia research
- CRISPR and Genetic Engineering
- Genomics and Phylogenetic Studies
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Single-cell and spatial transcriptomics
- Childhood Cancer Survivors' Quality of Life
- Genomics and Chromatin Dynamics
- Advanced biosensing and bioanalysis techniques
- Glioma Diagnosis and Treatment
- T-cell and Retrovirus Studies
- Protist diversity and phylogeny
- Renal and related cancers
- Lung Cancer Treatments and Mutations
- Hedgehog Signaling Pathway Studies
- Circular RNAs in diseases
- GABA and Rice Research
- Prenatal Screening and Diagnostics
- Cancer Immunotherapy and Biomarkers
- Cancer-related molecular mechanisms research
- Enzyme Production and Characterization
St. Jude Children's Research Hospital
2018-2025
University of Michigan
2014-2024
Loyola University Chicago
2008-2012
Sequencing errors are key confounding factors for detecting low-frequency genetic variants that important cancer molecular diagnosis, treatment, and surveillance using deep next-generation sequencing (NGS). However, there is a lack of comprehensive understanding introduced at various steps conventional NGS workflow, such as sample handling, library preparation, PCR enrichment, sequencing. In this study, we use current technology to systematically investigate these questions. By evaluating...
Abstract Long Interspersed Element-1 (LINE-1) retrotransposition contributes to inter- and intra-individual genetic variation occasionally can lead human disorders. Various strategies have been developed identify human-specific LINE-1 (L1Hs) insertions from short-read whole genome sequencing (WGS) data; however, they limitations in detecting complex repetitive genomic regions. Here, we a computational tool (PALMER) used it 203 non-reference L1Hs the NA12878 benchmark genome. Using PacBio...
Patients with short telomere syndromes (STS) are predisposed to developing cancer, believed stem from chromosome instability in neoplastic cells. We tested this hypothesis a large cohort assembled over the last 20 years. found that only solid cancers which patients STS squamous cell carcinomas of head and neck, anus, or skin, spectrum reminiscent seen immunodeficiency. Whole-genome sequencing showed no increase instability, such as translocations chromothripsis. Moreover, STS-associated...
Abstract When somatic cells acquire complex karyotypes, they often are removed by the immune system. Mutant that evade surveillance can lead to cancer. Neurons with karyotypes arise during neurotypical brain development, but neurons almost never origin of cancers. Instead, mutations in bring about neurodevelopmental disorders, and contribute polygenic landscape neuropsychiatric neurodegenerative disease. A subset human harbors idiosyncratic copy number variants (CNVs, “CNV neurons”),...
Abstract Despite contributing to over 60% of the driver variants in pediatric cancer, and many cases acting as cancer initiating event, structural (SVs) from a pan-cancer perspective remain understudied compared those adults. To explore SV landscape we mapped burden, recurrence, signatures, target genes 1,616 genomes encompassing 16 major types: hematological malignancies (n=908), brain tumors (n=183), solid (n=525). These results were against SVs an adult cohort (n=2,203) compiled by...
Structural variants (SVs) account for over 60% of the driver in pediatric cancer, and many cases act as cancer initiating event. To study SVs from a pan-cancer perspective, we analyzed 1,616 genomes 16 major types hematological malignancies (n = 908), brain tumors 183), solid 525) compared their profiles to those 2,203 adult cancers. The SV burden varied ~100-fold across demonstrated an 8- 16-fold reduction but was comparable versus malignancies. Recurrent hotspots occurred uniquely acute...
Nitrosomonas europaea is a chemolithoautotroph that obtains energy by oxidizing ammonia in the presence of oxygen and fixes CO(2) via Benson-Calvin cycle. Despite its environmental evolutionary importance, very little known about regulation metabolism glycogen, source carbon storage. Here, we cloned heterologously expressed genes coding for two major putative enzymes glycogen synthetic pathway N. europaea, ADP-glucose pyrophosphorylase synthase. In other bacteria, catalyzes regulatory step...
Abstract Somatic mosaicism is defined as an occurrence of two or more populations cells having genomic sequences differing at given loci in individual who derived from a single zygote. It characteristic multicellular organisms that plays crucial role normal development and disease. To study the nature extent somatic autism spectrum disorder, bipolar focal cortical dysplasia, schizophrenia, Tourette syndrome, multi-institutional consortium called Brain Mosaicism Network (BSMN) was formed...
The Mobile Genetic Elements and Genome Evolution conference was hosted by Keystone Symposia in Santa Fe, NM USA, 9 March through 14 2014. goal of this to bring together scientists from around the world who study transposable elements diverse organisms researchers impact these have on genome evolution. meeting included over 200 participated poster presentations, short talks selected abstracts, invited speakers. were organized into eight sessions two workshops. topics varied mechanisms...
SIRE1 is a 2,000-copy member of the Ty1/copia retroelement family found in soybean genome and closely related to sireviruses genomes other legumes. Although these elements resemble typical plant members family, they are unusual that possess an envelope-like coding region immediately downstream reverse transcriptase gene. Despite its copy number, very few currently present publicly available genomic assemblies or draft contigs. However, fragments well-represented as BAC-ends GenBank Genome...
Abstract Long Interspersed Element-1 (LINE-1 or L1) is the only autonomously active mobile genetic element in human genome. It has been shown to mobilize (i.e., retrotranspose) cancers, causing de novo somatic L1 insertions. Somatic retrotransposition can cause aberrant splicing of tumor suppressor genes by utilizing cryptic splice donor (SD) sites such as nucleotide 97 SD 5’UTR disrupting repressive regulatory regions proto-oncogenes, inducing activation, leading cancer. In contrast these...