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Benchmarking challenging small variants with linked and long reads - ScienceDirect
IJMS | Free Full-Text | Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis | Scientific Reports
Haplotype-based variant detection from short-read sequencing
PDF] Haplotype-based variant detection from short-read sequencing | Semantic Scholar
Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing | Nature Communications
HAPDeNovo: a haplotype-based approach for filtering and phasing de novo mutations in linked read sequencing data | BMC Genomics | Full Text
PDF] Haplotype-based variant detection from short-read sequencing | Semantic Scholar
6. Small Variant (SNP/MNP) Analysis
Sequencing 101: ploidy, haplotypes, and phasing — how to get more from your sequencing data - PacBio
Haplotype-based variant detection from short-read sequencing
Frontiers | Long-Read Sequencing Emerging in Medical Genetics
Frontiers | Long-Read Sequencing Emerging in Medical Genetics
Sequencing 101: ploidy, haplotypes, and phasing — how to get more from your sequencing data - PacBio
Ultraaccurate genome sequencing and haplotyping of single human cells | PNAS
Haplotype-based variant detection from short-read sequencing
Genes | Free Full-Text | Inferring Signatures of Positive Selection in Whole-Genome Sequencing Data: An Overview of Haplotype-Based Methods
Long walk to genomics: History and current approaches to genome sequencing and assembly - ScienceDirect
Haplotype-based variant detection from short-read sequencing
Challenges and opportunities associated with rare-variant pharmacogenomics: Trends in Pharmacological Sciences
Computational methods for chromosome-scale haplotype reconstruction | Genome Biology | Full Text
Variant calling with Freebayes | In-depth-NGS-Data-Analysis-Course
FreeBayes | Geneious
A unified haplotype-based method for accurate and comprehensive variant calling | Nature Biotechnology