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Marghoob Mohiyuddin

Explore the profile of Marghoob Mohiyuddin including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Hansen L, Jakobsen S, Zole E, Noer J, Fang L, Alizadeh S, et al.
Cancer Med . 2023 Aug; 12(17):17679-17691. PMID: 37602814
Backgrounds: Despite recent advances, many cancers are still detected too late for curative treatment. There is, therefore, a need for the development of new diagnostic methods and biomarkers. One approach...
2.
Feng W, Arrey G, Zole E, Lv W, Liang X, Han P, et al.
Comput Struct Biotechnol J . 2022 Jul; 20:3059-3067. PMID: 35782732
Extrachromosomal circular DNA (eccDNA) of chromosomal origin is common in eukaryotic cells. Amplification of oncogenes on large eccDNA (ecDNA) can drive biological processes such as tumorigenesis, and identification of eccDNA...
3.
Olson N, Wagner J, McDaniel J, Stephens S, Westreich S, Prasanna A, et al.
Cell Genom . 2022 Jun; 2(5). PMID: 35720974
The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied their variant-calling pipelines...
4.
Sahraeian S, Fang L, Karagiannis K, Moos M, Smith S, Santana-Quintero L, et al.
Genome Biol . 2022 Jan; 23(1):12. PMID: 34996510
Background: Accurate detection of somatic mutations is challenging but critical in understanding cancer formation, progression, and treatment. We recently proposed NeuSomatic, the first deep convolutional neural network-based somatic mutation detection...
5.
Pan B, Ren L, Onuchic V, Guan M, Kusko R, Bruinsma S, et al.
Genome Biol . 2022 Jan; 23(1):2. PMID: 34980216
Background: Reproducible detection of inherited variants with whole genome sequencing (WGS) is vital for the implementation of precision medicine and is a complicated process in which each step affects variant...
6.
Khayat M, Sahraeian S, Zarate S, Carroll A, Hong H, Pan B, et al.
Genome Biol . 2021 Dec; 22(1):347. PMID: 34930391
Background: Genomic structural variations (SV) are important determinants of genotypic and phenotypic changes in many organisms. However, the detection of SV from next-generation sequencing data remains challenging. Results: In this...
7.
Fang L, Zhu B, Zhao Y, Chen W, Yang Z, Kerrigan L, et al.
Nat Biotechnol . 2021 Sep; 39(9):1151-1160. PMID: 34504347
The lack of samples for generating standardized DNA datasets for setting up a sequencing pipeline or benchmarking the performance of different algorithms limits the implementation and uptake of cancer genomics....
8.
Jones W, Gong B, Novoradovskaya N, Li D, Kusko R, Richmond T, et al.
Genome Biol . 2021 Apr; 22(1):111. PMID: 33863366
Background: Oncopanel genomic testing, which identifies important somatic variants, is increasingly common in medical practice and especially in clinical trials. Currently, there is a paucity of reliable genomic reference samples...
9.
Yao L, Fu Y, Mohiyuddin M, Lam H
Sci Rep . 2020 Mar; 10(1):4983. PMID: 32188929
Tumor Mutational Burden (TMB) is a measure of the abundance of somatic mutations in a tumor, which has been shown to be an emerging biomarker for both anti-PD-(L)1 treatment and...
10.
Fuentes R, Chebotarov D, Duitama J, Smith S, de la Hoz J, Mohiyuddin M, et al.
Genome Res . 2019 Apr; 29(5):870-880. PMID: 30992303
Investigation of large structural variants (SVs) is a challenging yet important task in understanding trait differences in highly repetitive genomes. Combining different bioinformatic approaches for SV detection, we analyzed whole-genome...