trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios

trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios

Background: When analyzing DNA sequence data of an individual, knowing which nucleotide was inherited from each parent can be beneficial when trying to identify certain types of DNA variants. Mendelian inheritance logic can be used to accurately phase (haplotype) the majority (67–83%) of an individu...

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Bibliographic Details
Main Authors: Miller, D.B (Author), Piccolo, S.R (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2021
Subjects:
algorithm
Algorithms
article
Computation theory
Computer circuits
Digital storage
DNA sequence
DNA sequence data
Genes
genome
Genome
genomics
Genomics
haplotype
Haplotypes
Haplotyping
high throughput sequencing
High-Throughput Nucleotide Sequencing
human
Large amounts
logic
Logic
Mendelian inheritance
Next-generation sequencing
Nucleotides
Phasing
Phasing algorithms
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
single nucleotide polymorphism
software
Storage capacity
Trio
Trios
whole genome sequencing
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