[HTML][HTML] Next-generation sequencing technology: current trends and advancements
H Satam, K Joshi, U Mangrolia, S Waghoo, G Zaidi… - Biology, 2023 - mdpi.com
Simple Summary Next-generation sequencing (NGS) is a powerful tool used in genomics
research. NGS can sequence millions of DNA fragments at once, providing detailed …
research. NGS can sequence millions of DNA fragments at once, providing detailed …
[HTML][HTML] Best practices for variant calling in clinical sequencing
DC Koboldt - Genome Medicine, 2020 - Springer
Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
[HTML][HTML] High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …
genome sequencing (WGS) data consented for public distribution without access or use …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
[HTML][HTML] Ovarian cancer mutational processes drive site-specific immune evasion
High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic instability,,–
patterned by distinct mutational processes,, tumour heterogeneity,–and intraperitoneal …
patterned by distinct mutational processes,, tumour heterogeneity,–and intraperitoneal …
[HTML][HTML] Major impacts of widespread structural variation on gene expression and crop improvement in tomato
Structural variants (SVs) underlie important crop improvement and domestication traits.
However, resolving the extent, diversity, and quantitative impact of SVs has been …
However, resolving the extent, diversity, and quantitative impact of SVs has been …
[HTML][HTML] Efficient assembly of nanopore reads via highly accurate and intact error correction
Y Chen, F Nie, SQ Xie, YF Zheng, Q Dai, T Bray… - Nature …, 2021 - nature.com
Long nanopore reads are advantageous in de novo genome assembly. However, nanopore
reads usually have broad error distribution and high-error-rate subsequences. Existing error …
reads usually have broad error distribution and high-error-rate subsequences. Existing error …
[HTML][HTML] Structural variant calling: the long and the short of it
M Mahmoud, N Gobet, DI Cruz-Dávalos, N Mounier… - Genome biology, 2019 - Springer
Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …
and molecular biology, elucidating their role in various diseases, regulation of gene …
[HTML][HTML] Phased diploid genome assemblies and pan-genomes provide insights into the genetic history of apple domestication
Domestication of the apple was mainly driven by interspecific hybridization. In the present
study, we report the haplotype-resolved genomes of the cultivated apple (Malus domestica …
study, we report the haplotype-resolved genomes of the cultivated apple (Malus domestica …