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 …

Structural variation in the sequencing era

SS Ho, AE Urban, RE Mills - Nature Reviews Genetics, 2020 - nature.com
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

A chickpea genetic variation map based on the sequencing of 3,366 genomes

RK Varshney, M Roorkiwal, S Sun, P Bajaj… - Nature, 2021 - nature.com
Zero hunger and good health could be realized by 2030 through effective conservation,
characterization and utilization of germplasm resources. So far, few chickpea (Cicer …

Organoid profiling identifies common responders to chemotherapy in pancreatic cancer

H Tiriac, P Belleau, DD Engle, D Plenker, A Deschênes… - Cancer discovery, 2018 - AACR
Pancreatic cancer is the most lethal common solid malignancy. Systemic therapies are often
ineffective, and predictive biomarkers to guide treatment are urgently needed. We generated …

DNA sequencing at 40: past, present and future

J Shendure, S Balasubramanian, GM Church… - Nature, 2017 - nature.com
This review commemorates the 40th anniversary of DNA sequencing, a period in which we
have already witnessed multiple technological revolutions and a growth in scale from a few …

Marker-free carotenoid-enriched rice generated through targeted gene insertion using CRISPR-Cas9

OX Dong, S Yu, R Jain, N Zhang, PQ Duong… - Nature …, 2020 - nature.com
Targeted insertion of transgenes at pre-determined plant genomic safe harbors provides a
desirable alternative to insertions at random sites achieved through conventional methods …

Integrative analysis identifies four molecular and clinical subsets in uveal melanoma

AG Robertson, J Shih, C Yau, EA Gibb, J Oba… - Cancer cell, 2017 - cell.com
Comprehensive multiplatform analysis of 80 uveal melanomas (UM) identifies four
molecularly distinct, clinically relevant subtypes: two associated with poor-prognosis …

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

S Kosugi, Y Momozawa, X Liu, C Terao, M Kubo… - Genome biology, 2019 - Springer
Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly
impact the functions of the genes encoded in the genome and are responsible for diverse …

[HTML][HTML] Integrated genomic and molecular characterization of cervical cancer

Cancer Genome Atlas Research Network - Nature, 2017 - ncbi.nlm.nih.gov
Cervical cancer remains one of the leading causes of cancer-related deaths worldwide.
Reported here is an extensive molecular characterization of 228 primary cervical cancers …

The molecular taxonomy of primary prostate cancer

A Abeshouse, J Ahn, R Akbani, A Ally, S Amin… - Cell, 2015 - cell.com
There is substantial heterogeneity among primary prostate cancers, evident in the spectrum
of molecular abnormalities and its variable clinical course. As part of The Cancer Genome …