Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
A Fomin, A Gärtner, L Cyganek, M Tiburcy… - Science translational …, 2021 - science.org
Heterozygous truncating variants in TTN (TTNtv), the gene coding for titin, cause dilated
cardiomyopathy (DCM), but the underlying pathomechanisms are unclear and disease …
cardiomyopathy (DCM), but the underlying pathomechanisms are unclear and disease …
Standardizing digital biobanks: integrating imaging, genomic, and clinical data for precision medicine
V Brancato, G Esposito, L Coppola, C Cavaliere… - Journal of Translational …, 2024 - Springer
Advancements in data acquisition and computational methods are generating a large
amount of heterogeneous biomedical data from diagnostic domains such as clinical …
amount of heterogeneous biomedical data from diagnostic domains such as clinical …
Hepatobiliary tumor organoids reveal HLA class I neoantigen landscape and antitumoral activity of neoantigen peptide enhanced with immune checkpoint inhibitors
W Wang, T Yuan, L Ma, Y Zhu, J Bao, X Zhao… - Advanced …, 2022 - Wiley Online Library
Neoantigen‐directed therapy lacks preclinical models recapitulating neoantigen
characteristics of original tumors. It is urgent to develop a platform to assess T cell response …
characteristics of original tumors. It is urgent to develop a platform to assess T cell response …
A computational toolset for rapid identification of SARS-CoV-2, other viruses and microorganisms from sequencing data
In this paper, we present a toolset and related resources for rapid identification of viruses
and microorganisms from short-read or long-read sequencing data. We present fastv as an …
and microorganisms from short-read or long-read sequencing data. We present fastv as an …
Integrative genomics identifies SHPRH as a tumor suppressor gene in lung adenocarcinoma that regulates DNA damage response
AL Nagelberg, TS Sihota, YC Chuang, R Shi… - British Journal of …, 2024 - nature.com
Background Identification of driver mutations and development of targeted therapies has
considerably improved outcomes for lung cancer patients. However, significant limitations …
considerably improved outcomes for lung cancer patients. However, significant limitations …
CleanSeq: A pipeline for contamination detection, cleanup, and mutation verifications from microbial genome sequencing data
C Wang, Y Xia, Y Liu, C Kang, N Lu, D Tian, H Lu… - Applied Sciences, 2022 - mdpi.com
Contaminations frequently occur in bacterial cultures, which significantly affect the
reproducibility and reliability of the results from whole-genome sequencing (WGS) …
reproducibility and reliability of the results from whole-genome sequencing (WGS) …
Distinct myocardial transcriptomic profiles of cardiomyopathies stratified by the mutant genes
Cardiovascular diseases are the number one cause of morbidity and mortality worldwide,
but the underlying molecular mechanisms remain not well understood. Cardiomyopathies …
but the underlying molecular mechanisms remain not well understood. Cardiomyopathies …
Unique k-mer sequences for validating cancer-related substitution, insertion and deletion mutations
Cancer genome sequencing has led to important discoveries such as the identification of
cancer genes. However, challenges remain in the analysis of cancer genome sequencing …
cancer genes. However, challenges remain in the analysis of cancer genome sequencing …
Development, evaluation, and implementation of a House-made targeted next-generation sequencing spoligotyping in a French laboratory
C Genestet, Y Baffert, M Vallée, A Bernard… - International Journal of …, 2022 - mdpi.com
Epidemiological studies investigating transmission chains of tuberculosis are undertaken
worldwide to tackle its spread. CRISPR locus diversity, called spoligotyping, is a widely used …
worldwide to tackle its spread. CRISPR locus diversity, called spoligotyping, is a widely used …
Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing
D Kleftogiannis, D Ho, JX Liew, PSY Poon, A Gan… - Scientific Reports, 2020 - nature.com
Abstract Analysis of circulating cell-free DNA (cfDNA) has opened new opportunities for
characterizing tumour mutational landscapes with many applications in genomic-driven …
characterizing tumour mutational landscapes with many applications in genomic-driven …