Sökning: "whole genome haplotyping"

Hittade 2 avhandlingar innehållade orden whole genome haplotyping.

1. 1. Phasing single DNA molecules with barcode linked sequencing

   Författare :David Redin; Afshin Ahmadian; Ulf Gyllensten; KTH; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Single molecule sequencing; DNA barcoding; whole genome haplotyping; linked-read sequencing; phasing; de novo genome assembly.; Biotechnology; Bioteknologi;

   Sammanfattning : Elucidation of our genetic constituents has in the past decade predominately taken the form of short-read DNA sequencing. Revolutionary technology developments have enabled vast amounts of biological information to be obtained, but from a medical standpoint it has yet to live up to the promise of associating individual genotypes to phenotypic states of wide-spread clinical relevance. LÄS MER

3. 2. Exploring human variations by droplet barcoding

   Författare :Pontus Höjer; Afshin Ahmadian; Pelin Sahlén; Lars Feuk; KTH; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; droplets; linked-read sequencing; DNA barcoding; proteomics; genomics; single cell; single extracellular vesicle; single exosome; pipelines; Biotechnology; Bioteknologi;

   Sammanfattning : Biological variations are being explored at ever-increasing rates through the rapid advancement of analytical techniques. Techniques like massively parallel sequencing empower scientists to accurately differentiate individuals’ genetic compositions, cellular functionalities, and healthy tissue from diseased. LÄS MER