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 …

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 …

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 …

A computational toolset for rapid identification of SARS-CoV-2, other viruses and microorganisms from sequencing data

S Chen, C He, Y Li, Z Li… - Briefings in …, 2021 - academic.oup.com
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 …

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 …

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) …

Distinct myocardial transcriptomic profiles of cardiomyopathies stratified by the mutant genes

K Sielemann, Z Elbeck, A Gärtner, A Brodehl… - Genes, 2020 - mdpi.com
Cardiovascular diseases are the number one cause of morbidity and mortality worldwide,
but the underlying molecular mechanisms remain not well understood. Cardiomyopathies …

Unique k-mer sequences for validating cancer-related substitution, insertion and deletion mutations

HJ Lee, A Shuaibi, JM Bell, DS Pavlichin, HP Ji - NAR cancer, 2020 - academic.oup.com
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 …

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 …

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 …