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 …
large-scale sequencing because many of its applications, such as imputing low-frequency …
Single-cell whole-genome amplification and sequencing: methodology and applications
We present a survey of single-cell whole-genome amplification (WGA) methods, including
degenerate oligonucleotide–primed polymerase chain reaction (DOP-PCR), multiple …
degenerate oligonucleotide–primed polymerase chain reaction (DOP-PCR), multiple …
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
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 …
genetic variation. We present a microfluidics-based, linked-read sequencing technology that …
The oyster genome reveals stress adaptation and complexity of shell formation
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 …
genomically poorly explored phyla, the Mollusca. Here we report the sequencing and …
HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies
Many tools have been developed for haplotype assembly—the reconstruction of individual
haplotypes using reads mapped to a reference genome sequence. Due to increasing …
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
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 …
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
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 …
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 …
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 …
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 …
sequencing of data from long DNA molecules using economical second-generation …