An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data
Next-generation sequencing is a powerful approach for discovering genetic variation.
Sensitive variant calling and haplotype inference from population sequencing data remain …
Sensitive variant calling and haplotype inference from population sequencing data remain …
Fast imputation using medium or low-coverage sequence data
PM VanRaden, C Sun, JR O'Connell - BMC genetics, 2015 - Springer
Background Accurate genotype imputation can greatly reduce costs and increase benefits
by combining whole-genome sequence data of varying read depth and array genotypes of …
by combining whole-genome sequence data of varying read depth and array genotypes of …
Accurate and efficient cell lineage tree inference from noisy single cell data: the maximum likelihood perfect phylogeny approach
Y Wu - Bioinformatics, 2020 - academic.oup.com
Motivation Cells in an organism share a common evolutionary history, called cell lineage
tree. Cell lineage tree can be inferred from single cell genotypes at genomic variation sites …
tree. Cell lineage tree can be inferred from single cell genotypes at genomic variation sites …
HapFABIA: identification of very short segments of identity by descent characterized by rare variants in large sequencing data
S Hochreiter - Nucleic acids research, 2013 - academic.oup.com
Identity by descent (IBD) can be reliably detected for long shared DNA segments, which are
found in related individuals. However, many studies contain cohorts of unrelated individuals …
found in related individuals. However, many studies contain cohorts of unrelated individuals …
GINDEL: accurate genotype calling of insertions and deletions from low coverage population sequence reads
Insertions and deletions (indels) are important types of structural variations. Obtaining
accurate genotypes of indels may facilitate further genetic study. There are a few existing …
accurate genotypes of indels may facilitate further genetic study. There are a few existing …
Genotype calling from next-generation sequencing data using haplotype information of reads
Motivation: Low coverage sequencing provides an economic strategy for whole genome
sequencing. When sequencing a set of individuals, genotype calling can be challenging due …
sequencing. When sequencing a set of individuals, genotype calling can be challenging due …
Rare variant association testing under low-coverage sequencing
Deep sequencing technologies enable the study of the effects of rare variants in disease
risk. While methods have been developed to increase statistical power for detection of such …
risk. While methods have been developed to increase statistical power for detection of such …
Modeling biases from low-pass genome sequencing to enable accurate population genetic inferences
EM Fonseca, LN Tran, H Mendoza, RN Gutenkunst - bioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Low-pass genome sequencing is cost-effective and enables analysis of large cohorts.
However, it introduces biases by reducing heterozygous genotypes and low-frequency …
However, it introduces biases by reducing heterozygous genotypes and low-frequency …
REU Site: Bio-Grid Initiatives for interdisciplinary research and education
CH Huang - Proceedings of the Workshop on Education for High …, 2015 - dl.acm.org
The Bio-Grid REU (Research Experience for Undergraduates) Site offers undergraduate
students to participate in the research activities associated with the Bio-Grid Initiatives …
students to participate in the research activities associated with the Bio-Grid Initiatives …
Identification of Candidate Causal Variants and Estimation of Genetic Associations in GWAS and Post-GWAS Studies
L Faye - 2013 - library-archives.canada.ca
Genome-wide association studies (GWAS) and next generation sequencing (NGS) studies
are powerful high-throughput methods of scanning the human genome that have …
are powerful high-throughput methods of scanning the human genome that have …