Targeted phasing of 2-200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method.

In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes. Resolving these allelic differences by chromosomal copy, also known as phasing, is achievable on a short-read sequencer when using a library preparation method that captures long-range genomic information. TELL-Seq is a library preparation that captures long-range genomic information with the aid of molecular identifiers (barcodes).

Is it Time to Normalize Scapular Dyskinesis? The Incidence of Scapular Dyskinesis in Those With and Without Symptoms: a Systematic Review of the Literature.

Background: Up to 67% of adults experience shoulder pain in their lifetime. Numerous factors are related to the etiology of shoulder pain, one of which is thought to be scapular dyskinesis (SD). Given the prevalence of SD among the asymptomatic population a concern is that the condition is being medicalized (clinical findings suggested to require treatment but is ultimately a normal finding).

Targeted Phasing of 2-200 Kilobase DNA Fragments with a Short-Read Sequencer and a Single-Tube Linked-Read Library Method.

In the human genome, heterozygous sites are genomic positions with different alleles inherited from each parent. On average, there is a heterozygous site every 1-2 kilobases (kb). Resolving whether two alleles in neighboring heterozygous positions are physically linked-that is, phased-is possible with a short-read sequencer if the sequencing library captures long-range information.

Targeted short read sequencing and assembly of re-arrangements and candidate gene loci provide megabase diplotypes.

The human genome is composed of two haplotypes, otherwise called diplotypes, which denote phased polymorphisms and structural variations (SVs) that are derived from both parents. Diplotypes place genetic variants in the context of cis-related variants from a diploid genome. As a result, they provide valuable information about hereditary transmission, context of SV, regulation of gene expression and other features which are informative for understanding human genetics.