An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data

Y Wang, J Lu, J Yu, RA Gibbs, F Yu - Genome research, 2013 - genome.cshlp.org
Next-generation sequencing is a powerful approach for discovering genetic variation.
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 …

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 …

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 …

GINDEL: accurate genotype calling of insertions and deletions from low coverage population sequence reads

C Chu, J Zhang, Y Wu - PloS one, 2014 - journals.plos.org
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 …

Genotype calling from next-generation sequencing data using haplotype information of reads

D Zhi, J Wu, N Liu, K Zhang - Bioinformatics, 2012 - academic.oup.com
Motivation: Low coverage sequencing provides an economic strategy for whole genome
sequencing. When sequencing a set of individuals, genotype calling can be challenging due …

Rare variant association testing under low-coverage sequencing

O Navon, JH Sul, B Han, L Conde, PM Bracci, J Riby… - Genetics, 2013 - academic.oup.com
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 …

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 …

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 …

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 …