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MethPhaser: methylation-based long-read haplotype phasing of human genomes
The assignment of variants across haplotypes, phasing, is crucial for predicting the consequences, interaction, and inheritance of mutations and is a...
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Experimental phasing opportunities for macromolecular crystallography at very long wavelengths
Despite recent advances in cryo-electron microscopy and artificial intelligence-based model predictions, a significant fraction of structure...
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Simultaneous de novo calling and phasing of genetic variants at chromosome-scale using NanoStrand-seq
The successful accomplishment of the first telomere-to-telomere human genome assembly, T2T-CHM13, marked a milestone in achieving completeness of the...
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Dynamic analysis of a multi-stage gear system considering the coupling between mesh phasing angle and coaxial teeth ratio
The mesh phasing angle is an important influencing factor in a gear dynamic system. However, previous studies of mesh phasing in a multi-stage gear...
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GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C
Chromosome-level haplotype-resolved genome assembly is an important resource in molecular biology. However, current de novo haplotype assemblers...
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Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing...
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Accurate genome-wide phasing from IBD data
As genotype databases increase in size, so too do the number of detectable segments of identity by descent (IBD): segments of the genome where two...
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A novel design of graphene field-effect transistor-based out-phasing power amplifier
Graphene transistors are promising candidates for nano-circuits in telecommunication bands due to their high amplification bandwidth, extremely high...
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Duet: SNP-assisted structural variant calling and phasing using Oxford nanopore sequencing
BackgroundWhole genome sequencing using the long-read Oxford Nanopore Technologies (ONT) MinION sequencer provides a cost-effective option for...
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Haplotype phasing of CYP2D6: an allelic ratio method using Agena MassARRAY data
Pharmacogenomics aims to use the genetic information of an individual to personalize drug prescribing. There is evidence that pharmacogenomic testing...
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Targeted phasing of 2–200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method
In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal...
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Bipolar impact and phasing of Heinrich-type climate variability
During the last ice age, the Laurentide Ice Sheet exhibited extreme iceberg discharge events that are recorded in North Atlantic sediments
1 . These...
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Read-Based Phasing and Analysis of Phased Variants with WhatsHap
WhatsHap is a command-line tool for phasing and phasing-related tasks. It allows to infer haplotypes in diploid and polyploid samples based on...
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Graphical optimization method for bidirectional corridor progression under the signal design mode of split phasing
Using the spatial and temporal characteristics of vehicle movement to analyze the control effect of the corridor progression, we can deeply explore...
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HapCUT2: A Method for Phasing Genomes Using Experimental Sequence Data
Rapid advances in high-throughput DNA sequencing technologies have enabled variant discovery from whole-genome sequencing (WGS) datasets; however...
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Phasing DNA Methylation
Haploty** enables the study of allele-specific events. Heterozygous variants, primarily single nucleotide variants (SNVs), enable the assignment of...
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Phasing analysis of lung cancer genomes using a long read sequencer
Chromosomal backgrounds of cancerous mutations still remain elusive. Here, we conduct the phasing analysis of non-small cell lung cancer specimens of...
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DeepEdit: single-molecule detection and phasing of A-to-I RNA editing events using nanopore direct RNA sequencing
Single-molecule detection and phasing of A-to-I RNA editing events remain an unresolved problem. Long-read and PCR-free nanopore native RNA...
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Benchmarking phasing software with a whole-genome sequenced cattle pedigree
BackgroundAccurate haplotype reconstruction is required in many applications in quantitative and population genomics. Different phasing methods are...
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Experiences and consequences of phasing out substances of concern in a multinational healthcare company
BackgroundIn 2015, one of the largest healthcare companies in the world committed to phasing out from all its products and processes worldwide any...
