Results 1 to 10 of about 361,110 (397)

Haplotype-aware graph indexes [PDF]

open access: yesarXiv, 2018
The variation graph toolkit (VG) represents genetic variation as a graph. Each path in the graph is a potential haplotype, though most paths are unlikely recombinations of true haplotypes. We augment the VG model with haplotype information to identify which paths are more likely to be correct.
Jouni Sirén   +4 more
arxiv   +12 more sources

Haplotype-resolved de novo assembly with phased assembly graphs [PDF]

open access: yesNature Methods, 2021, 2020
Haplotype-resolved de novo assembly is the ultimate solution to the study of sequence variations in a genome. However, existing algorithms either collapse heterozygous alleles into one consensus copy or fail to cleanly separate the haplotypes to produce high-quality phased assemblies.
Haoyu Cheng   +4 more
arxiv   +2 more sources

Mapping Haplotype-haplotype Interactions with Adaptive LASSO [PDF]

open access: yesBMC Genetics, 2010
Background The genetic etiology of complex diseases in human has been commonly viewed as a complex process involving both genetic and environmental factors functioning in a complicated manner.
Li Ming   +3 more
doaj   +4 more sources

Minimum error correction-based haplotype assembly: considerations for long read data [PDF]

open access: yes, 2018
The single nucleotide polymorphism (SNP) is the most widely studied type of genetic variation. A haplotype is defined as the sequence of alleles at SNP sites on each haploid chromosome. Haplotype information is essential in unravelling the genome-phenotype association.
de Ridder, Dick   +2 more
arxiv   +3 more sources

Haplotype Assembly: An Information Theoretic View [PDF]

open access: yesarXiv, 2014
This paper studies the haplotype assembly problem from an information theoretic perspective. A haplotype is a sequence of nucleotide bases on a chromosome, often conveniently represented by a binary string, that differ from the bases in the corresponding positions on the other chromosome in a homologous pair.
Si, Hongbo   +2 more
arxiv   +3 more sources

Combining haplotypers [PDF]

open access: yesarXiv, 2007
Statistically resolving the underlying haplotype pair for a genotype measurement is an important intermediate step in gene mapping studies, and has received much attention recently. Consequently, a variety of methods for this problem have been developed.
Kääriäinen, Matti   +3 more
arxiv   +3 more sources

Genetic variants in the fat mass and obesity-associated (FTO) gene confer risk for extreme obesity and modulate adiposity in a Brazilian population [PDF]

open access: yesGenetics and Molecular Biology, 2020
Obesity is a major public health problem worldwide. It has a complex etiology, influenced by environmental and genetic factors. FTO has been recognized as an important genetic factor for obesity development.
Ana Carolina Proença da Fonseca   +8 more
doaj   +1 more source

Genotyping of invasive Ponto-Caspian gobies in Croatia [PDF]

open access: yesJournal of Central European Agriculture, 2020
The biology and ecology of non-native freshwater Ponto-Caspian (P-C) gobies: monkey goby, Neogobius fluviatilis (Pallas, 1814), round goby, Neogobius melanostomus (Pallas, 1814) and bighead goby, Ponticola kessleri (Günther, 1861) have been studied in ...
Goran Jakšić   +6 more
doaj   +1 more source

Extinction and emergence of genomic haplotypes during the evolution of Avian coronavirus in chicken embryos [PDF]

open access: yesGenetics and Molecular Biology, 2020
Avian coronavirus (AvCoV) is ubiquitously present on poultry as a multitude of virus lineages. Studies on AvCoV phenotypic traits are dependent on the isolation of field strains in chicken embryonated eggs, but the mutant spectrum on each isolate is not ...
Paulo E. Brandão   +4 more
doaj   +1 more source

The haplotype-resolved chromosome pairs of a heterozygous diploid African cassava cultivar reveal novel pan-genome and allele-specific transcriptome features

open access: yesGigaScience, 2022
Background Cassava (Manihot esculenta) is an important clonally propagated food crop in tropical and subtropical regions worldwide. Genetic gain by molecular breeding has been limited, partially because cassava is a highly heterozygous crop with a ...
Chao Fang   +19 more
semanticscholar   +1 more source

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