Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.03.012
Abstract: Genetic studies in underrepresented populations identify disproportionate numbers of novel associations. However, most genetic studies use genotyping arrays and sequenced reference panels that best capture variation most common in European ancestry populations. To compare data… read more here.
Keywords: low coverage; variation; coverage sequencing; coverage ... See more keywords
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genomics"
DOI: 10.1186/s12920-020-0726-x
Abstract: Background Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for ID due to high detection rate of… read more here.
Keywords: low coverage; whole genome; diagnostic test; coverage sequencing ... See more keywords
Assessment of the performance of different imputation methods for low-coverage sequencing in Holstein cattle.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of dairy science"
DOI: 10.3168/jds.2021-21360
Abstract: Low-coverage sequencing (LCS) followed by imputation has been proposed as a cost-effective genotyping approach for obtaining genotypes of whole-genome variants. Imputation performance is essential for the effectiveness of this approach. Several imputation methods have been… read more here.
Keywords: imputation methods; coverage sequencing; holstein cattle; low coverage ... See more keywords