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FreeBayes | Geneious
Frontiers | Long-Read Sequencing Emerging in Medical Genetics
Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis | Scientific Reports
Long walk to genomics: History and current approaches to genome sequencing and assembly - ScienceDirect
Computational methods for chromosome-scale haplotype reconstruction | Genome Biology | Full Text
Frontiers | Long-Read Sequencing Emerging in Medical Genetics
Benchmarking challenging small variants with linked and long reads - ScienceDirect
Genes | Free Full-Text | Inferring Signatures of Positive Selection in Whole-Genome Sequencing Data: An Overview of Haplotype-Based Methods
Increasing calling accuracy, coverage, and read-depth in sequence data by the use of haplotype blocks | PLOS Genetics
Haplotype-based variant detection from short-read sequencing
Sequencing 101: ploidy, haplotypes, and phasing — how to get more from your sequencing data - PacBio
PDF] Haplotype-based variant detection from short-read sequencing | Semantic Scholar
Challenges and opportunities associated with rare-variant pharmacogenomics: Trends in Pharmacological Sciences
Haplotype-based variant detection from short-read sequencing
Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing | Nature Communications
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications | Nature Genetics
Sequencing 101: ploidy, haplotypes, and phasing — how to get more from your sequencing data - PacBio
Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures | bioRxiv
Ultraaccurate genome sequencing and haplotyping of single human cells | PNAS
Haplotype-based variant detection from short-read sequencing
PDF] Haplotype-based variant detection from short-read sequencing | Semantic Scholar
Frontiers | Haplotype-Based Genotyping in Polyploids
PDF] Haplotype-based variant detection from short-read sequencing | Semantic Scholar
NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks | Genome Biology | Full Text
Overview of the two main classes of haplotype phasing strategies. The... | Download Scientific Diagram
A complete reference genome improves analysis of human genetic variation | Science