Results 21 to 30 of about 781,120 (260)
Envisioning the next human genome reference [PDF]
Disease Models & Mechanisms, 2021 Summary: We provide an Editorial perspective on approaches to improve ethnic representation in the human genome reference sequence, enabling its widespread use in genomic studies and precision medicine to benefit all peoples.
Monkol Lek, Elaine R. Mardis
openaire +3 more sources
G3: Genes, Genomes, Genetics, 2020 Camelina sativa (L.) Crantz an oilseed crop of the Brassicaceae family is gaining attention due to its potential as a source of high value oil for food, feed or fuel. The hexaploid domesticated C.
Raju Chaudhary +9 more
doaj +1 more source
Building and Improving Reference Genome Assemblies [PDF]
Proceedings of the IEEE, 2017 A genome sequence assembly provides the foundation for studies of genotypic and phenotypic variation, genome structure, and evolution of the target organism. In the past four decades, there has been a surge of new sequencing technologies, and with these developments, computational scientists have developed new algorithms to improve genome assembly ...
Karyn Meltz Steinberg +6 more
openaire +2 more sources
Identity and compatibility of reference genome resources [PDF]
NAR Genomics and Bioinformatics, 2021 Genome analysis relies on reference data like sequences, feature annotations, and aligner indexes. These data can be found in many versions from many sources, making it challenging to identify and assess compatibility among them. For example, how can you determine which indexes are derived from identical raw sequence files, or which annotations share a
Michał Stolarczyk +2 more
openaire +3 more sources
Building a Pan-Genome Reference for a Population [PDF]
Journal of Computational Biology, 2015 Abstract A reference genome is a high quality individual genome that is used as a coordinate system for the genomes of a population, or genomes of closely related subspecies. Given a set of genomes partitioned by homology into alignment blocks we formalize the problem of ordering and orienting the blocks such that the resulting ...
Ngan Nguyen +8 more
openaire +4 more sources
The GIAB genomic stratifications resource for human reference genomes
Nature Communications, 2023 Abstract Despite the growing variety of sequencing and variant-calling tools, no workflow performs equally well across the entire human genome. Understanding context-dependent performance is critical for enabling researchers, clinicians, and developers to make informed tradeoffs when selecting sequencing hardware ...
Nathan Dwarshuis +13 more
openaire +6 more sources
G3: Genes, Genomes, Genetics, 2017 Genetic variation in natural populations represents the raw material for phenotypic diversity. Species-wide characterization of genetic variants is crucial to have a deeper insight into the genotype-phenotype relationship.
Téo Fournier +8 more
doaj +1 more source
Plants, 2023 Caryopteris x Clandonensis, also known as bluebeard, is an ornamental plant containing a large variety of terpenes and terpene-like compounds. Four different cultivars were subjected to a principal component analysis to elucidate variations in terpenoid ...
Manfred Ritz +3 more
doaj +1 more source
Limitations of the Human Reference Genome for Personalized Genomics
PLoS ONE, 2012 Data from the 1000 genomes project (1KGP) and Complete Genomics (CG) have dramatically increased the numbers of known genetic variants and challenge several assumptions about the reference genome and its uses in both clinical and research settings. Specifically, 34% of published array-based GWAS studies for a variety of diseases utilize probes that ...
Jeffrey A Rosenfeld +2 more
openaire +4 more sources
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes [PDF]
Nature Communications, 2016 Abstract Human genomes are routinely compared against a universal reference. However, this strategy could miss population-specific and personal genomic variations, which may be detected more efficiently using an ethnically relevant or personal reference.
Cho, Yun Sung +16 more
openaire +6 more sources