Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.
Sign Up to like & getrecommendations! Published in 2022 at "Nature genetics"
DOI: 10.1038/s41588-022-01043-w
Abstract: Typical genotyping workflows map reads to a reference genome before identifying genetic variants. Generating such alignments introduces reference biases and comes with substantial computational burden. Furthermore, short-read lengths limit the ability to characterize repetitive genomic… read more here.
Keywords: genome inference; pangenome based; genotyping; wide spectrum ... See more keywords
Rapid identification of homozygosity and site of wild relative introgressions in wheat through chromosome‐specific KASP genotyping assays
Sign Up to like & getrecommendations! Published in 2019 at "Plant Biotechnology Journal"
DOI: 10.1111/pbi.13241
Abstract: Summary For future food security, it is important that wheat, one of the most widely consumed crops in the world, can survive the threat of abiotic and biotic stresses. New genetic variation is currently being… read more here.
Keywords: kasp; wheat; kasp assays; chromosome specific ... See more keywords
Abstract IA006: Overcoming complex polyclonality for accurate clinical genotyping in metastatic prostate cancer
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.prca2023-ia006
Abstract: Background: De novo metastatic castration-sensitive prostate cancer (mCSPC) is highly aggressive, but the lack of routine tumor tissue in this setting hinders genomic stratification and jeopardizes precision oncology efforts. Accurate molecular profiling at diagnosis is… read more here.
Keywords: genotyping; prostate cancer; polyclonality; tumor ... See more keywords
Ultra Low-Coverage Whole-Genome Sequencing as an Alternative to Genotyping Arrays in Genome-Wide Association Studies
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.790445
Abstract: An array-based genotyping approach has been the standard practice for genome-wide association studies (GWASs); however, as sequencing costs plummet over the past years, ultra low-coverage whole-genome sequencing (ulcWGS read more here.
Keywords: genome sequencing; coverage; genome wide; whole genome ... See more keywords