Mohammed Faizal Eeman Mootor
A5060719512- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Chromosomal and Genetic Variations
- Gene expression and cancer classification
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Cancer Research and Treatments
- Lung Cancer Treatments and Mutations
- Lung Cancer Research Studies
- Genomics and Chromatin Dynamics
- Single-cell and spatial transcriptomics
- Cancer Genomics and Diagnostics
- Ferroptosis and cancer prognosis
- Brain Metastases and Treatment
- Digestive system and related health
- Genomics and Rare Diseases
- Genetics, Bioinformatics, and Biomedical Research
- Environmental DNA in Biodiversity Studies
University of California, Los Angeles
2023-2025
SciGenom Labs (India)
2022
Abstract The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To enable technology developers along with research clinical laboratories to evaluate variant detection on male X Y, we create a small benchmark set 111,725 variants for Genome Bottle HG002 reference material. We develop an active evaluation approach demonstrate reliably identifies errors challenging genomic regions across...
DNA sequencing continues to get cheaper and faster. In parallel, algorithmic innovations have allowed inference of a wide range nuclear, mitochondrial, somatic evolutionary from data. To make automated, high-quality more readily available, we created an extensible Nextflow meta-pipeline called metapipeline-DNA. Metapipeline-DNA supports processing raw reads through alignment, variant detection, quality control subclonal reconstruction. Each step quality-control, data-visualization multiple...
Abstract Parkinson's disease (PD) is a genetically heterogeneous neurodegenerative with poorly defined environmental influences. Genomic studies of PD patients have identified disease‐relevant monogenic genes, rare variants significance, and polygenic risk‐associated variants. In this study, whole genome sequencing data from 90 young onset (YOPD) individuals are analyzed for both risk. The genetic variant analysis identifies pathogenic/likely pathogenic in eight the (8.8%). It includes large...
Abstract Subclonal reconstruction algorithms use bulk DNA sequencing data to quantify parameters of tumor evolution, allowing an assessment how cancers initiate, progress and respond selective pressures. We launched the ICGC–TCGA (International Cancer Genome Consortium–The Atlas) DREAM Somatic Mutation Calling Tumor Heterogeneity Evolution Challenge benchmark existing subclonal algorithms. This 7-year community effort used cloud computing 31 on 51 simulated tumors. Algorithms were scored...
Somatic mosaicism is an important cause of disease, but mosaic and somatic variants are often challenging to detect because they exist in only a fraction cells. To address the need for benchmarking subclonal normal cell populations, we developed benchmark containing Genome Bottle Consortium (GIAB) HG002 reference material DNA from large batch lymphoblastoid line. First, used variant caller with high coverage (300x) Illumina whole genome sequencing data Ashkenazi Jewish trio not detected at...
e13108 Background: Breast cancer is the leading cause of cancer-related deaths among women in Brazil and type with highest incidence. When diagnosed at early stages, it has an overall five-year survival rate up to 90%. However, advanced reduced about 24%, 90% stage IV die metastatic complications. Brain one most common sites breast patients, even though a site poor prognosis, mutational profile brain tumors poorly described literature. Therefore, we understand that identification this may...
The etiology of prostate cancer (PC) is multifactorial and poorly understood. It has been suggested that colibactin-producing Escherichia coli positive for the pathogenicity island pks (pks+) initiate cancers via induction genomic instability. In PC, androgens promote oncogenic translocations. Our aim was to investigate association pks+E. with PC diagnosis molecular architecture, its relationship androgens. We quantified in a volunteer-sampled 235-person cohort from two institutional...
Abstract The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To evaluate variant detection on X Y, we created an 111,725 benchmark for Genome a Bottle HG002 reference material. We show how complete assemblies can expand benchmarks to difficult regions, highlight remaining challenges benchmarking complex gene conversions, copy number variable arrays, human satellites.