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 …

Epigenetic therapies for cancer

SE Bates - New England Journal of Medicine, 2020 - Mass Medical Soc
Epigenetic Therapies for Cancer | New England Journal of Medicine Skip to main content The
New England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES …

Coming of age: ten years of next-generation sequencing technologies

S Goodwin, JD McPherson, WR McCombie - Nature reviews genetics, 2016 - nature.com
Since the completion of the human genome project in 2003, extraordinary progress has
been made in genome sequencing technologies, which has led to a decreased cost per …

The emerging clinical relevance of genomics in cancer medicine

MF Berger, ER Mardis - Nature reviews Clinical oncology, 2018 - nature.com
The combination of next-generation sequencing and advanced computational data analysis
approaches has revolutionized our understanding of the genomic underpinnings of cancer …

A practical guide to cancer subclonal reconstruction from DNA sequencing

M Tarabichi, A Salcedo, AG Deshwar… - Nature …, 2021 - nature.com
Subclonal reconstruction from bulk tumor DNA sequencing has become a pillar of cancer
evolution studies, providing insight into the clonality and relative ordering of mutations and …

[HTML][HTML] Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: a joint recommendation of the Association for Molecular …

S Roy, C Coldren, A Karunamurthy, NS Kip… - The Journal of Molecular …, 2018 - Elsevier
Bioinformatics pipelines are an integral component of next-generation sequencing (NGS).
Processing raw sequence data to detect genomic alterations has significant impact on …

Immune escape of relapsed AML cells after allogeneic transplantation

MJ Christopher, AA Petti, MP Rettig… - … England Journal of …, 2018 - Mass Medical Soc
Background As consolidation therapy for acute myeloid leukemia (AML), allogeneic
hematopoietic stem-cell transplantation provides a benefit in part by means of an immune …

Genome sequencing as an alternative to cytogenetic analysis in myeloid cancers

EJ Duncavage, MC Schroeder… - … England Journal of …, 2021 - Mass Medical Soc
Background Genomic analysis is essential for risk stratification in patients with acute myeloid
leukemia (AML) or myelodysplastic syndromes (MDS). Whole-genome sequencing is a …

Artificial intelligence assists precision medicine in cancer treatment

J Liao, X Li, Y Gan, S Han, P Rong, W Wang… - Frontiers in …, 2023 - frontiersin.org
Cancer is a major medical problem worldwide. Due to its high heterogeneity, the use of the
same drugs or surgical methods in patients with the same tumor may have different curative …

Computational analysis of cancer genome sequencing data

I Cortés-Ciriano, DC Gulhan, JJK Lee… - Nature Reviews …, 2022 - nature.com
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …