[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 …
Computational analysis of cancer genome sequencing data
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …
comprehensive identification of somatic alterations using rigorous computational methods …
The genomic landscape of pediatric acute lymphoblastic leukemia
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Here, using
whole-genome, exome and transcriptome sequencing of 2,754 childhood patients with ALL …
whole-genome, exome and transcriptome sequencing of 2,754 childhood patients with ALL …
Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution
Pancreatic adenocarcinoma presents as a spectrum of a highly aggressive disease in
patients. The basis of this disease heterogeneity has proved difficult to resolve due to poor …
patients. The basis of this disease heterogeneity has proved difficult to resolve due to poor …
Organoid profiling identifies common responders to chemotherapy in pancreatic cancer
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 …
ineffective, and predictive biomarkers to guide treatment are urgently needed. We generated …
Genomes for kids: the scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing
S Newman, J Nakitandwe, CA Kesserwan, EM Azzato… - Cancer discovery, 2021 - AACR
Genomic studies of pediatric cancer have primarily focused on specific tumor types or high-
risk disease. Here, we used a three-platform sequencing approach, including whole …
risk disease. Here, we used a three-platform sequencing approach, including whole …
[HTML][HTML] Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing
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 …
impact the functions of the genes encoded in the genome and are responsible for diverse …
Whole-genome and epigenomic landscapes of etiologically distinct subtypes of cholangiocarcinoma
Cholangiocarcinoma (CCA) is a hepatobiliary malignancy exhibiting high incidence in
countries with endemic liver-fluke infection. We analyzed 489 CCAs from 10 countries …
countries with endemic liver-fluke infection. We analyzed 489 CCAs from 10 countries …
[HTML][HTML] A new genomic framework to categorize pediatric acute myeloid leukemia
Recent studies on pediatric acute myeloid leukemia (pAML) have revealed pediatric-specific
driver alterations, many of which are underrepresented in the current classification schemas …
driver alterations, many of which are underrepresented in the current classification schemas …
[HTML][HTML] Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software
In recent years, many software packages for identifying structural variants (SVs) using whole-
genome sequencing data have been released. When published, a new method is commonly …
genome sequencing data have been released. When published, a new method is commonly …