Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping

Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers

(2021) Eric J. Duncavage et al.   NEW ENGLAND JOURNAL OF MEDICINE

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

(2021) Peter Ebert et al.   SCIENCE

Chromoanagenesis, the mechanisms of a genomic chaos

(2021) F. Pellestor et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Identification of Somatic Structural Variants in Solid Tumors by Optical Genome Mapping

(2021) David Y. Goldrich et al.   Journal of Personalized Medicine

A robust benchmark for detection of germline large deletions and insertions

(2020) Justin M. Zook et al.   NATURE BIOTECHNOLOGY

AmpliconReconstructor integrates NGS and optical mapping to resolve the complex structures of focal amplifications

(2020) Jens Luebeck et al.   Nature Communications

Genome maps across 26 human populations reveal population-specific patterns of structural variation

(2019) Michal Levy-Sakin et al.   Nature Communications

European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms

(2019) K. A. Rack et al.   LEUKEMIA

The Genome of C57BL/6J "Eve", the Mother of the Laboratory Mouse Genome Reference Strain

(2019) Vishal K. Sarsani et al.   G3-Genes Genomes Genetics

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

(2019) Wouter De Coster et al.   GENOME RESEARCH

Multi-platform discovery of haplotype-resolved structural variation in human genomes

(2019) Mark J. P. Chaisson et al.   Nature Communications

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

Driver Fusions and Their Implications in the Development and Treatment of Human Cancers

(2018) Qingsong Gao et al.   Cell Reports

Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group

(2018) Xinjie Xu et al.   Cancer Genetics

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

(2017) Jason D Merker et al.   GENETICS IN MEDICINE

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

(2017) Lisenka E.L.M. Vissers et al.   GENETICS IN MEDICINE

Improved maize reference genome with single-molecule technologies

(2017) Yinping Jiao et al.   NATURE

Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome

(2017) Derek M Bickhart et al.   NATURE GENETICS

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

(2017) Mircea Cretu Stancu et al.   Nature Communications

Next generation mapping reveals novel large genomic rearrangements in prostate cancer

(2017) Weerachai Jaratlerdsiri et al.   Oncotarget

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

(2017) Hayk Barseghyan et al.   Genome Medicine

Tracing the tissue of origin of plasma DNA-feasibility and implications

(2016) Yuk Ming Dennis Lo et al.   Annals of the New York Academy of Sciences

Guidelines for genomic array analysis in acquired haematological neoplastic disorders

(2016) Jacqueline Schoumans et al.   GENES CHROMOSOMES & CANCER

Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities

(2016) Fady M. Mikhail et al.   GENETICS IN MEDICINE

Whole-transcriptome sequencing identifies a distinct subtype of acute lymphoblastic leukemia with predominant genomic abnormalities ofEP300andCREBBP

(2016) Maoxiang Qian et al.   GENOME RESEARCH

De novo assembly and phasing of a Korean human genome

(2016) Jeong-Sun Seo et al.   NATURE

Long-read sequencing and de novo assembly of a Chinese genome

(2016) Lingling Shi et al.   Nature Communications

Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays

(2015) A. C. Y. Mak et al.   GENETICS

Sequencing the AML Genome, Transcriptome, and Epigenome

(2014) Elaine R. Mardis   SEMINARS IN HEMATOLOGY

KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas

(2012) Antje Brockschmidt et al.   BRAIN

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

(2012) Paul A. Northcott et al.   NATURE

Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly

(2012) Ernest T Lam et al.   NATURE BIOTECHNOLOGY

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

(2011) Wigard P Kloosterman et al.   GENOME BIOLOGY

Musashi-2 regulates normal hematopoiesis and promotes aggressive myeloid leukemia

(2010) Michael G Kharas et al.   NATURE MEDICINE