Advancing personalized medicine through the application of whole exome sequencing and big data analytics

P Suwinski, CK Ong, MHT Ling, YM Poh… - Frontiers in …, 2019 - frontiersin.org
There is a growing attention toward personalized medicine. This is led by a fundamental
shift from the 'one size fits all'paradigm for treatment of patients with conditions or …

Cancer neoantigens: challenges and future directions for prediction, prioritization, and validation

ES Borden, KH Buetow, MA Wilson… - Frontiers in oncology, 2022 - frontiersin.org
Prioritization of immunogenic neoantigens is key to enhancing cancer immunotherapy
through the development of personalized vaccines, adoptive T cell therapy, and the …

Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma

AS Ho, A Ochoa, G Jayakumaran… - The Journal of …, 2019 - Am Soc Clin Investig
BACKGROUND Adenoid cystic carcinoma (ACC) is a rare malignancy arising in salivary
glands and other sites, characterized by high rates of relapse and distant spread …

Benchmarking variant callers in next-generation and third-generation sequencing analysis

S Pei, T Liu, X Ren, W Li, C Chen… - Briefings in …, 2021 - academic.oup.com
DNA variants represent an important source of genetic variations among individuals. Next-
generation sequencing (NGS) is the most popular technology for genome-wide variant …

NGSEP3: accurate variant calling across species and sequencing protocols

D Tello, J Gil, CD Loaiza, JJ Riascos, N Cardozo… - …, 2019 - academic.oup.com
Motivation Accurate detection, genoty** and downstream analysis of genomic variants
from high-throughput sequencing data are fundamental features in modern production …

Bioinformatics for precision oncology

J Singer, A Irmisch, HJ Ruscheweyh… - Briefings in …, 2019 - academic.oup.com
Molecular profiling of tumor biopsies plays an increasingly important role not only in cancer
research, but also in the clinical management of cancer patients. Multi-omics approaches …

Host genetics and gut microbiota jointly regulate blood biochemical indicators in chickens

X Jiang, B Zhang, F Lan, C Zhong, J **, X Li… - Applied microbiology …, 2023 - Springer
Blood biochemical indicators play a crucial role in assessing an individual's overall health
status and metabolic function. In this study, we measured five blood biochemical indicators …

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

LT Fang, B Zhu, Y Zhao, W Chen, Z Yang… - Nature …, 2021 - nature.com
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 …

The mutational landscape of the SCAN‐B real‐world primary breast cancer transcriptome

C Brueffer, S Gladchuk, C Winter… - EMBO molecular …, 2020 - embopress.org
Breast cancer is a disease of genomic alterations, of which the panorama of somatic
mutations and how these relate to subtypes and therapy response is incompletely …

Human exome sequencing and prospects for predictive medicine: Analysis of international data and own experience

OS Glotov, AN Chernov, AS Glotov - Journal of Personalized Medicine, 2023 - mdpi.com
Today, whole-exome sequencing (WES) is used to conduct the massive screening of
structural and regulatory genes in order to identify the allele frequencies of disease …