A Long-Read Sequencing Approach for Direct Haplotype Phasing in Clinical Settings

Targeted nanopore sequencing with Cas9-guided adapter ligation

(2020) Timothy Gilpatrick et al.   NATURE BIOTECHNOLOGY

Nanopore Sequencing of a Forensic STR Multiplex Reveals Loci Suitable for Single-Contributor STR Profiling

(2020) Olivier Tytgat et al.   Genes

DNA Barcoding of Nematodes Using the MinION

(2020) Ineke E. Knot et al.   Frontiers in Ecology and Evolution

Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting

(2020) Esben B. Madsen et al.   HUMAN MUTATION

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

(2019) Melissa Leija-Salazar et al.   Molecular Genetics & Genomic Medicine

Long-Read Sequencing Emerging in Medical Genetics

(2019) Tuomo Mantere et al.   Frontiers in Genetics

A Rapid and Accurate MinION-Based Workflow for Tracking Species Biodiversity in the Field

(2019) Maestri et al.   Genes

Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing

(2019) Peter Edge et al.   Nature Communications

Minimap2: pairwise alignment for nucleotide sequences

(2018) Heng Li   BIOINFORMATICS

NanoPack: visualizing and processing long-read sequencing data

(2018) Wouter De Coster et al.   BIOINFORMATICS

Haplotype analysis of APOE intragenic SNPs

(2018) Vladimir N. Babenko et al.   BMC NEUROSCIENCE

Nanopore sequencing and assembly of a human genome with ultra-long reads

(2018) Miten Jain et al.   NATURE BIOTECHNOLOGY

An APOE Haplotype Associated with Decreased ε4 Expression Increases the Risk of Late Onset Alzheimer's Disease

(2018) Francesco Lescai et al.   JOURNAL OF ALZHEIMERS DISEASE

Recent Advances in Experimental Whole Genome Haplotyping Methods

(2017) Mengting Huang et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

On site DNA barcoding by nanopore sequencing

(2017) Michele Menegon et al.   PLoS One

Dense and accurate whole-chromosome haplotyping of individual genomes

(2017) David Porubsky et al.   Nature Communications

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

(2017) Mircea Cretu Stancu et al.   Nature Communications

Direct chromosome-length haplotyping by single-cell sequencing

(2016) David Porubský et al.   GENOME RESEARCH

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

(2016) Peter Edge et al.   GENOME RESEARCH

Chromosome-scale shotgun assembly using an in vitro method for long-range linkage

(2016) Nicholas H. Putnam et al.   GENOME RESEARCH

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

(2016) Raffaele Ferrari et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

(2016) Grace X Y Zheng et al.   NATURE BIOTECHNOLOGY

Oxford Nanopore MinION Sequencing and Genome Assembly

(2016) Hengyun Lu et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

(2016) Thomas W. Laver et al.   Scientific Reports

Age-Related Macular Degeneration–Associated Genes in Alzheimer Disease

(2015) Michael A. Williams et al.   AMERICAN JOURNAL OF GERIATRIC PSYCHIATRY

WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads

(2015) Murray Patterson et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese population

(2015) Rong Lin et al.   JOURNAL OF HUMAN GENETICS

Haplotype-resolved genome sequencing: experimental methods and applications

(2015) Matthew W. Snyder et al.   NATURE REVIEWS GENETICS

Genotype and Haplotype Analyses of TP53 Gene in Breast Cancer Patients: Association with Risk and Clinical Outcomes

(2015) Veronika Vymetalkova et al.   PLoS One

Probabilistic single-individual haplotyping

(2014) V. Kuleshov   BIOINFORMATICS

Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age

(2014) Joris Deelen et al.   HUMAN MOLECULAR GENETICS

Association of MAPT haplotypes with Alzheimer’s disease risk and MAPT brain gene expression levels

(2014) Mariet Allen et al.   Alzheimers Research & Therapy

CrossMap: a versatile tool for coordinate conversion between genome assemblies

(2013) Hao Zhao et al.   BIOINFORMATICS

Evidence from case–control and longitudinal studies supports associations of genetic variation in APOE, CETP, and IL6 with human longevity

(2012) Mette Soerensen et al.   AGE

Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited

(2011) Joris Deelen et al.   AGING CELL

A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals

(2011) Almut Nebel et al.   MECHANISMS OF AGEING AND DEVELOPMENT

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

(2009) E. Lieberman-Aiden et al.   SCIENCE

Haplotypes of the EPCR gene, prothrombin levels, and the risk of venous thrombosis in carriers of the prothrombin G20210A mutation

(2008) S. Navarro et al.   HAEMATOLOGICA