Haplotype phasing: existing methods and new developments

SR Browning, BL Browning - Nature Reviews Genetics, 2011 - nature.com
Determination of haplotype phase is becoming increasingly important as we enter the era of
large-scale sequencing because many of its applications, such as imputing low-frequency …

Single-cell whole-genome amplification and sequencing: methodology and applications

L Huang, F Ma, A Chapman, S Lu… - Annual review of …, 2015 - annualreviews.org
We present a survey of single-cell whole-genome amplification (WGA) methods, including
degenerate oligonucleotide–primed polymerase chain reaction (DOP-PCR), multiple …

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

GXY Zheng, BT Lau, M Schnall-Levin, M Jarosz… - Nature …, 2016 - nature.com
Haplotyping of human chromosomes is a prerequisite for cataloguing the full repertoire of
genetic variation. We present a microfluidics-based, linked-read sequencing technology that …

The oyster genome reveals stress adaptation and complexity of shell formation

G Zhang, X Fang, X Guo, LI Li, R Luo, F Xu, P Yang… - Nature, 2012 - nature.com
Abstract The Pacific oyster Crassostrea gigas belongs to one of the most species-rich but
genomically poorly explored phyla, the Mollusca. Here we report the sequencing and …

HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies

P Edge, V Bafna, V Bansal - Genome research, 2017 - genome.cshlp.org
Many tools have been developed for haplotype assembly—the reconstruction of individual
haplotypes using reads mapped to a reference genome sequence. Due to increasing …

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

MA Eberle, E Fritzilas, P Krusche, M Källberg… - Genome …, 2017 - genome.cshlp.org
Improvement of variant calling in next-generation sequence data requires a comprehensive,
genome-wide catalog of high-confidence variants called in a set of genomes for use as a …

De novo assembly and phasing of a Korean human genome

JS Seo, A Rhie, J Kim, S Lee, MH Sohn, CU Kim… - Nature, 2016 - nature.com
Advances in genome assembly and phasing provide an opportunity to investigate the
diploid architecture of the human genome and reveal the full range of structural variation …

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

ET Lam, A Hastie, C Lin, D Ehrlich, SK Das… - Nature …, 2012 - nature.com
We describe genome mapping on nanochannel arrays. In this approach, specific sequence
motifs in single DNA molecules are fluorescently labeled, and the DNA molecules are …

Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing

S Amini, D Pushkarev, L Christiansen, E Kostem… - Nature …, 2014 - nature.com
Haplotype-resolved genome sequencing enables the accurate interpretation of medically
relevant genetic variation, deep inferences regarding population history and non-invasive …

Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping …

O Wang, R Chin, X Cheng, MKY Wu, Q Mao… - Genome …, 2019 - genome.cshlp.org
Here, we describe single-tube long fragment read (stLFR), a technology that enables
sequencing of data from long DNA molecules using economical second-generation …