Genetic landscape of congenital pouch colon: systematic review and functional enrichment study

S Phugat, J Sharma, S Kumar, V Jain, AK Dhua… - Pediatric Surgery …, 2024 - Springer
Background Despite extensive clinical documentation, few studies have explored the
genetic basis of congenital pouch colon (CPC) which is crucial for early detection …

[HTML][HTML] Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population

L Binobaid, HMA Sobeai, K Alhazzani, L AlAbdi… - Saudi Pharmaceutical …, 2024 - Elsevier
Background Although national efforts are underway to document the genomic variability of
the Saudi population relative to other populations, such variability remains largely …

Lnc-EPB41-protein interactions associated with congenital pouch colon

S Gupta, N Gupta, P Tiwari, S Menon, P Mathur… - Biomolecules, 2018 - mdpi.com
Congenital Pouch Colon (CPC) is a rare anorectal anomaly common to northwestern India,
specifically Rajasthan. Despite efforts to understand the clinical genetic makeup of CPC, no …

Deciphering LncRNA–protein interactions using docking complexes

R Suravajhala, S Gupta, N Kumar… - Journal of Biomolecular …, 2022 - Taylor & Francis
Deciphering RNA–protein interactions are important to study principal biological
mechanisms including transcription and translation regulation, gene silencing, among …

[HTML][HTML] Clinical prognostic implications of EPB41L4A expression in multiple myeloma

W Zhang, R Lai, X He, X Liu, Y Zhang, Z Yang… - Journal of …, 2020 - ncbi.nlm.nih.gov
Background: Multiple myeloma (MM) is one of the most common incurable malignancies in
malignant plasma cell disease. EPB41L4A is a target gene for the Wnt/β-catenin pathway …

[HTML][HTML] Molecular characterization of vascular intestinal obstruction using whole-exome sequencing

Z Ji, Z Du, C Zheng, H Dou, H Jiang… - Annals of …, 2022 - ncbi.nlm.nih.gov
Background Vascular intestinal obstruction is a rare intestinal disease with a rapid
progression, poor prognosis, and high mortality. This study aimed to identify several …

SeqVItA: Sequence variant identification and annotation platform for next generation sequencing data

P Dharanipragada, SR Seelam, N Parekh - Frontiers in Genetics, 2018 - frontiersin.org
The current trend in clinical data analysis is to understand how individuals respond to
therapies and drug interactions based on their genetic makeup. This has led to a paradigm …

Next Generation Sequencing

A Prasad, H Bhargava, A Gupta, N Shukla… - Advances in …, 2021 - Springer
The next generation sequencing (NGS) technology refers to non-Sanger based DNA
sequencing methods which have replaced conventional sequencing methods. They have …

Benchmarking whole exome sequencing pipeline for predicting pathogenic variants of significance

RM Raju, UP Singh, P Suravajhala - bioRxiv, 2023 - biorxiv.org
Benchmarking whole exome pipelines is crucial for evaluating and comparing their
performance in variant calling and clinical significance annotation. It enables researchers …

Genome variant characterization, population stratification, and systemic analysis for precision medicine in patients with ovarian failure

I Henarejos Castillo - 2024 - roderic.uv.es
Ovarian failure is a complex and multifactorial disorder usually characterized by an
accelerated depletion of the follicular reserve before the age of natural menopause in …