haplotype
Study Spells Out Separate Parental, Fetal Genome Contributions to Fetal Growth
With the help of phased Icelandic genomes, researchers found fetal growth-associated variants in maternal, paternal, and fetal genomes, including some with opposite effects on growth.
New Haplotagging Method Offers Low-Cost Phasing, Genome Scaffolding With Short-Read Sequencing
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Sample prep for low-coverage Illumina sequencing can be done in less than two days and for less than $2 per library, according to the developers.
Imputation of UK Biobank Data Uncovers Rare Coding Variants Linked to Range of Traits
The approach used haplotype sharing to power imputation of rare variants and uncovered more than 1,000 likely causal variant-trait associations.
Haplotype-Resolved Human Genomes Help Complete Picture of Structural Variants
With a long-read sequencing and de novo genome assembly strategy, investigators found structural variants and hotspots that have been missed in the past.
The methods, both published in Nature Biotechnology this week, result in completely phased haplotypes, without the need for sequencing parental samples.