Kunjan Patel
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View article: Evaluating the Readability and Quality of Bladder Cancer Information from AI Chatbots: A Comparative Study Between ChatGPT, Google Gemini, Grok, Claude and DeepSeek
Evaluating the Readability and Quality of Bladder Cancer Information from AI Chatbots: A Comparative Study Between ChatGPT, Google Gemini, Grok, Claude and DeepSeek Open
Background/Objectives: Artificial Intelligence (AI)-based chatbots such as ChatGPT are easily available and are quickly becoming a source of information for patients as opposed to traditional Google searches. We assessed the quality of inf…
View article: Design and Fabrication of Pellet Stove
Design and Fabrication of Pellet Stove Open
A Pellet stove is Mechanical Device which uses compressed wood or biomass pellets to create a source of heat for residential and industrial spaces [6].These stoves are electronically sophisticated appliances that offer an environmentally f…
View article: ‘Blood in pee’ campaign: Increased demand on secondary care with no change in cancers diagnosed
‘Blood in pee’ campaign: Increased demand on secondary care with no change in cancers diagnosed Open
Objective: As part of the national Be Clear on Cancer campaign, the ‘blood in pee’ campaign was launched in 2013. We aimed to evaluate the impact of the campaign on 2-week wait (2WW) referrals and the resulting diagnoses of malignancy at a…
View article: A multicentre integration of a computer‐led follow‐up of prostate cancer is valid and safe
A multicentre integration of a computer‐led follow‐up of prostate cancer is valid and safe Open
Objective To test a computer‐led follow‐up service for prostate cancer in two UK hospitals; the testing aimed to validate the computer expert system in making clinical decisions according to the individual patient's clinical need with a va…
View article: Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants Open
Next generation sequencing (NGS) technologies have revolutionized our approach to genomic research. The use of whole genome sequencing (WGS), whole exome sequencing (WES), transcriptome profiling, and targeted DNA sequencing has exponentia…
View article: Compound heterozygous <i><scp>CASQ</scp>2</i> mutations and long‐term course of catecholaminergic polymorphic ventricular tachycardia
Compound heterozygous <i><span>CASQ</span>2</i> mutations and long‐term course of catecholaminergic polymorphic ventricular tachycardia Open
Background Catecholaminergic polymorphic ventricular tachycardia ( CPVT ) is a potentially lethal inherited cardiac disorder characterized by episodic ventricular tachycardia during adrenergic stimulation. It is associated with significant…
View article: Demographic, clinical features, and sequencing results of the sixteen patients in test cohort.
Demographic, clinical features, and sequencing results of the sixteen patients in test cohort. Open
Legend: Ethnicitiy: AA = African American, Cau = Caucasian, His = Hispanic, Isr = Israeli, Ben = Bengali, Mex = Mexican, N/A = Not Available; Clinical Information: DD = Developmental Delay, DF = Dyspmorphic Features, MCA = Multiple Congeni…
View article: Summary of sequencing coverage and detected variants for test cohort.
Summary of sequencing coverage and detected variants for test cohort. Open
* indicates samples that were multiplexed together.TG471.002 was added to another lane for logistic reasons.Summary of sequencing coverage and detected variants for test cohort.
View article: Mutational pedigree of TG471.001 and TG472.002, sisters with DCM.
Mutational pedigree of TG471.001 and TG472.002, sisters with DCM. Open
Affected sisters are indicated in black. Associated variants are provided under each family member.
View article: Custom panel design.
Custom panel design. Open
The pie chart illustrates the percent of genes included in the custom design categorized based on specific diseases/abnormalities. Of note the Ashkenazi Jews variant disorders have been kept separate because they represent an ethnic divisi…
View article: Cost comparison of target sequencing panel Einstein_v1 versus Whole Exome Sequencing.
Cost comparison of target sequencing panel Einstein_v1 versus Whole Exome Sequencing. Open
* The number of SNVs/InDels identified was based on samples used in the current analysis (n = 2 for WES and matching target sequencing).** Based on estimated $1,400/lane 150 bp pair end sequencing on Illumina 2500.Cost comparison of target…
View article: Variant Calling Pipeline.
Variant Calling Pipeline. Open
The vcf file created through the project quality control pipeline is filtered for frequency using 1000Genome, dbSNP, ExAC, and NHLBI Exome Project. All variants with a MAF <1% are then prioritized by gene function and genomic region. Varia…
View article: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family
A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family Open
Hearing loss is a complex disorder caused by both genetic and environmental factors. Previously, mutations in CIB2 have been identified as a common cause of genetic hearing loss in Pakistani and Turkish populations. Here we report a novel …
View article: Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants Open
We identified potentially disease-associated variants: 22 missense, 4 nonsense, 1 frameshift, and 1 splice variants (16 previously identified, 12 novel among dbSNP and 15 novel among NHLBI Exome Variant Server). We found multi-disease targ…