Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review حسب Amal Elfatih (14778550)

Genetic Susceptibility to Arrhythmia Phenotypes in a Middle Eastern Cohort of 14,259 Whole-Genome Sequenced Individuals حسب Fatima Qafoud (14778571)

"…Methods: Whole-genome sequencing data from 14,259 individuals from the Qatar Biobank were used and contained 47.8% of Arab ancestry, 18.4% of South Asian ancestry, and 4.6% of African ancestry. …"

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank حسب Geethanjali Devadoss Gandhi (14780425)

"…The genome sequencing data were analyzed for 125 nuclear genes known to be associated with 115 treatable IMDs. …"

Phenotypic and Molecular Characterization of Multi-drug Resistant Klebsiella spp. Isolates Recovered from Clinical Settings حسب Diab, Hassan

"…It also confirms that whole-genome sequencing data should be integrated into routine and targeted pathogen surveillance, outbreak detection, and infection control.…"
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Drug Resistance Induction and Phenotypic and Genotypic Characterization of a Candida albicans Drug Sensitive Isolate حسب El Hachem, Setrida Charbel

"…Furthermore, whole genome sequencing data revealed mutations in genes involved in resistance and pathogenicity attributes such as ERG11, CHS3, GSC2, CDR2, CRZ2, and MSH2. …"
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High plasma salivary α-amylase, but not high AMY1 copy number, associated with low obesity rate in Qatari adults: cross-sectional study حسب Neyla Al-Akl (12225508)

"…AMY1 CN was estimated form whole genome sequencing data. The associations with obesity prevalence were assessed by linear and logistic regressions. …"

Molecular Classification of Breast Cancer Utilizing Long Non-Coding RNA (lncRNA) Transcriptomes Identifies Novel Diagnostic lncRNA Panel for Triple-Negative Breast Cancer حسب Hibah Shaath (5599658)

"…In the current study, we utilize RNA sequencing data to identify lncRNA-based biomarkers associated with TNBC, ER+ subtypes, and normal breast tissue. …"

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects حسب Ilhame Diboun (3522413)

"…In this study, we combined whole-genome sequencing data from the Qatar Genome Program with deep phenotype data from Qatar Biobank for 14,056 subjects to determine the genetic spectrum and estimate the prevalence of FH in Qatar. …"

Elevated levels of salivary α- amylase activity in saliva associated with reduced odds of obesity in adult Qatari citizens: A cross-sectional study حسب Neyla Al-Akl (12225508)

"…We cross-sectionally quantified ssAAa in saliva and estimated AMY1 CN from whole-genome sequencing data from 1499 participants. Linear regression was used to assess the relationship between ssAAa and adiposity and glycemic markers. …"

Comparative transcriptomics of primary cells in vertebrates حسب Tanvir Alam (638619)

"…Here, we compare expression profiles in matching primary cells in human, mouse, rat, dog, and chicken using Cap Analysis Gene Expression (CAGE) and short RNA (sRNA) sequencing data from FANTOM5. While we find that expression profiles of orthologous genes in different species are highly correlated across cell types, in each cell type many genes were differentially expressed between species. …"

Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population حسب Shaza Malik (18456735)

"…</p><h3>Methods</h3><p dir="ltr">In this study, we analyzed whole-genome sequencing data generated by the Qatar Genome Programme for 6045 Qatar Biobank participants, to identify G6PDD variants in the Qatari population. …"

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in <i>LMNA</i> and <i>DSP</i> حسب Amal Elfatih (14778550)

"…We used whole genome sequencing data from 6045 participants from the Qatar Genome Programme and integrated it with phenotypic data collected by the Qatar Biobank. …"

Copy number variations in the genome of the Qatari population حسب Khalid A. Fakhro (3158862)

"…Genotyping intensities and genome sequencing data from 97 Qataris were analyzed with four different algorithms and integrated to discover 16,660 high confidence CNV regions (CNVRs) in the total population, affecting ~28 Mb in the median Qatari genome. …"

Genomic Landscape And Structural Impact Of Biotinidase (BTD) Variants In A Middle Eastern Population حسب BalaSubramani Gattu Linga (19325617)

"…</p><h3 dir="ltr">Methods</h3><p dir="ltr">Whole-genome sequencing data from 14,669 QGP participants were examined to identify single-nucleotide and structural variants in <i>BTD</i>. …"

Location matters: spatial dynamics of tumor-infiltrating T cell subsets is prognostic in colon cancer حسب Hehuan Zhu (4808445)

"…The localization of T cells within tumor epithelium, to enable direct contact, is essential for antitumor function, but bulk DNA/RNA sequencing data lacks spatial distribution information. …"