Variant calling and benchmarking in an era of complete human genome sequences

ND Olson, J Wagner, N Dwarshuis, KH Miga… - Nature Reviews …, 2023 - nature.com
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019–2022

JM Butler - Forensic Science International: Synergy, 2023 - Elsevier
This review paper covers the forensic-relevant literature in biological sciences from 2019 to
2022 as a part of the 20th INTERPOL International Forensic Science Managers Symposium …

Analysis and benchmarking of small and large genomic variants across tandem repeats

AC English, E Dolzhenko, H Ziaei Jam… - Nature …, 2024 - nature.com
Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits and are linked to over 60 disease phenotypes. However, they …

Benchmarking of small and large variants across tandem repeats

A English, E Dolzhenko, H Ziaei-Jam, ND Olson… - bioRxiv, 2023 - biorxiv.org
Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits, and are linked to over 60 disease phenotypes. However, their …

Forensic nanopore sequencing of microhaplotype markers using QitanTech's QNome

Z Wang, L Qin, J Liu, L Jiang, X Zou, X Chen… - Forensic Science …, 2022 - Elsevier
In recent years, extraordinary progress has been made in genome sequencing
technologies, which has led to a decrease in cost and an increase in the diversity of …

The revolution of animal genomics in forensic sciences

I Cardinali, D Tancredi, H Lancioni - International Journal of Molecular …, 2023 - mdpi.com
Nowadays, the coexistence between humans and domestic animals (especially dogs and
cats) has become a common scenario of daily life. Consequently, during a forensic …

A proof-of-principle study: The potential application of MiniHap biomarkers in ancestry inference based on the QNome nanopore sequencing

J Liu, S Li, Y Su, Y Wen, L Qin, M Zhao, M Hui… - Forensic Science …, 2024 - Elsevier
Haplotyped SNPs convey forensic-related information, and microhaplotypes (MHs), as the
most representative of this kind of marker, have proved the potential value for human …

Exploring S-RNase diversity in the Andean black cherry (Prunus serotina) using MinION sequencing: a cost-effective approach with increased genotyping resolution

M Becerra-Wong, M Gordillo-Romero, LC Baus… - Euphytica, 2023 - Springer
The Andean black cherry (P. serotina) is an underutilized fruit species that could contribute
to the development of sustainable food systems in the Andean region. The species displays …

Evaluation of Library Preparation Workflows and Applications to Different Sample Types Using the PowerSeq® 46GY System with Massively Parallel Sequencing

K Elwick, P Rydzak, JM Robertson - Genes, 2023 - mdpi.com
This project evaluated the prototype PowerSeq® 46GY System using donor DNA and
casework-type samples. The goal of this study was to determine whether modifications to the …

Nanopore sequencing of forensic short tandem repeats using QNome of Qitan Technology

TT Yang, JR Zhang, ZH Xie, ZL Ren, JW Yan… - …, 2024 - Wiley Online Library
Devices of nanopore sequencing can be highly portable and of low cost. Thus, nanopore
sequencing is promising in in‐field forensic applications. Previous investigations have …