WebNov 16, 2024 · Extra or missing chromosomes-a phenomenon termed aneuploidy-frequently arise during human meiosis and embryonic mitosis and are the leading cause of pregnancy loss, including in the context of in vitro fertilization (IVF). WebFeb 3, 2024 · Locations of crossovers were determined from haplotype phase transitions in parent–proband pairs based on informative markers where the parents were heterozygous. Initially, the location was determined by the 2 closest heterozygous markers to the crossover, providing upper and lower bounds for the location. ... Haplotype-aware …
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WebMay 3, 2024 · Herein we proposed Hapo-G (Haplotype-Aware Polishing Of Genomes), a new algorithm capable of incorporating phasing information from high-quality reads (short or long-reads) to polish genome assemblies and in particular assemblies of diploid and heterozygous genomes. Issue Section: METHART INTRODUCTION WebSep 6, 2024 · 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 Method Open Access Published: 06 September 2024 crypto phones
HLApers: HLA Typing and Quantification of Expression with …
WebDetermining the DNA sequence of each genome copy and strain (together are called haplotype here), which is referred to as haplotype-aware genome assembly, plays a crucial role in genomics, medicine, and many other disciplines, because biological functionalities or phenotypic appearance can differ substantially across different haplotypes. WebHere we present a computational method, Numbat, that integrates haplotype information obtained from population-based phasing with allele and expression signals to … WebJan 4, 2024 · In this work, we extend these methods into transcriptomics to analyze sequencing data using the pantranscriptome: a population-level transcriptomic reference. Our novel toolchain can construct spliced pangenome graphs, map RNA-seq data to these graphs, and perform haplotype-aware expression quantification of transcripts in a … crypto phones prices