Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23265
Abstract: The advent of next‐generation sequencing has dramatically decreased the cost for whole‐genome sequencing and increased the viability for its application in research and clinical care. The Personal Genome Project (PGP) provides unrestricted access to genomes… read more here.
Keywords: personal genome; community; whole genomes; genome ... See more keywords
Whole genome sequences from non-invasively collected caribou faecal samples
Sign Up to like & getrecommendations! Published in 2021 at "Conservation Genetics Resources"
DOI: 10.1007/s12686-021-01235-2
Abstract: Conservation genomics is an important tool to manage threatened species under current biodiversity loss. Recent advances in sequencing technology mean that we can now use whole genomes to investigate demographic history, local adaptation, inbreeding, and… read more here.
Keywords: whole genome; dna; faecal samples; conservation ... See more keywords
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Sign Up to like & getrecommendations! Published in 2020 at "Nature"
DOI: 10.1038/s41586-020-1965-x
Abstract: The discovery of drivers of cancer has traditionally focused on protein-coding genes1-4. Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the Pan-Cancer Analysis of Whole Genomes… read more here.
Keywords: analyses non; structural variants; cancer; whole genomes ... See more keywords
Pan-cancer analysis of whole genomes
Sign Up to like & getrecommendations! Published in 2020 at "Nature"
DOI: 10.1038/s41586-020-1969-6
Abstract: Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and… read more here.
Keywords: pan cancer; cancer analysis; analysis whole; whole genomes ... See more keywords
Inherited causes of clonal haematopoiesis in 97,691 whole genomes (vol 586 , pg 763, 2020)
Sign Up to like & getrecommendations! Published in 2021 at "Nature"
DOI: 10.1038/s41586-021-03280
Abstract: Age is the dominant risk factor for most chronic human diseases; yet the mechanisms by which aging confers this risk are largely unknown.1 Recently, the age-related acquisition of somatic mutations in regenerating hematopoietic stem cell… read more here.
Keywords: whole genome; medicine; whole genomes; cell ... See more keywords
Ancient mitochondrial and modern whole genomes unravel massive genetic diversity loss during near extinction of Alpine ibex
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Ecology"
DOI: 10.1111/mec.16503
Abstract: Population bottlenecks can have dramatic consequences for the health and long‐term survival of a species. Understanding of historic population size and standing genetic variation prior to a contraction allows estimating the impact of a bottleneck… read more here.
Keywords: alpine ibex; modern whole; genetic diversity; diversity ... See more keywords
Whole genomes and transcriptomes reveal adaptation and domestication of pistachio
Sign Up to like & getrecommendations! Published in 2019 at "Genome Biology"
DOI: 10.1186/s13059-019-1686-3
Abstract: BackgroundPistachio (Pistacia vera), one of the most important commercial nut crops worldwide, is highly adaptable to abiotic stresses and is tolerant to drought and salt stresses.ResultsHere, we provide a draft de novo genome of pistachio… read more here.
Keywords: adaptation domestication; domestication; pistachio; whole genomes ... See more keywords
Whole genomes define concordance of matched primary, xenograft, and organoid models of pancreas cancer
Sign Up to like & getrecommendations! Published in 2019 at "PLoS Computational Biology"
DOI: 10.1371/journal.pcbi.1006596
Abstract: Pancreatic ductal adenocarcinoma (PDAC) has the worst prognosis among solid malignancies and improved therapeutic strategies are needed to improve outcomes. Patient-derived xenografts (PDX) and patient-derived organoids (PDO) serve as promising tools to identify new drugs… read more here.
Keywords: copy number; genomes define; pdac; concordance ... See more keywords
Past Connectivity but Recent Inbreeding in Cross River Gorillas Determined Using Whole Genomes from Single Hairs
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030743
Abstract: The critically endangered western gorillas (Gorilla gorilla) are divided into two subspecies: the western lowland (G. g. gorilla) and the Cross River (G. g. diehli) gorilla. Given the difficulty in sampling wild great ape populations… read more here.
Keywords: cross river; river; whole genomes; gorilla ... See more keywords
How many single-copy orthologous genes from whole genomes reveal deep gastropod relationships?
Sign Up to like & getrecommendations! Published in 2022 at "PeerJ"
DOI: 10.7717/peerj.13285
Abstract: The Gastropoda contains 80% of existing mollusks and is the most diverse animal class second only to the Insecta. However, the deep phylogeny of gastropods has been controversial for a long time. Especially the position… read more here.
Keywords: single copy; copy orthologous; whole genomes; orthologous genes ... See more keywords