Material Linked-read whole genome sequencing (WGS) presents a new opportunity for cost-efficient singleton sequencing in place of traditional trio-based designs while generating informative-phased variants, effective for recessive disorders when parental DNA is unavailable. Methods We have applied linked-...
Genome rearrangements are critical oncogenic driver events in many malignancies. However, the identification and resolution of the structure of cancer genomic rearrangements remain challenging even with whole genome sequencing.#To identify oncogenic genomic rearrangements and resolve their structure, we ...
indicating ReMIX to be a reliable approach for constructing and studying variation in fine-scale recombination landscapes. Individualized genome-wide recombination maps that were previously constructed from extensive genotyping in thousands of offspring or whole genome sequencing of individual gametes25...
Whole-genome sequencing HMW: High molecular weight MMA: Methylmalonic acidemia PKU: Phenylketonuria ARPKD: Autosomal recessive polycystic kidney disease DFNB1A: Autosomal recessive deafness-1A gDNA: Genomic DNA BWA: Burrows–Wheeler Aligner HMM: Hidden Markov model cM: Centimorgan CVS: Ch...
Since WES only covers a small portion of regions in the whole genome, it is far more challenging to detect SVs from WES data, especially when the SV breakpoints are not in the capture regions. However, by combining linked-read sequencing with WES capture platforms, it is possible to ...
P.295Linked-read whole genome sequencing in patients with congenital myopathydoi:10.1016/j.nmd.2019.06.409J. LehtonenV. LehtokariH. AlmusaA. SulonenK. PelinElsevier BVNeuromuscular Disorders
Using whole genome linked-read sequencing we phased the variants to haplotypes providing genetic background for the retinal dystrophies. In future, when the price of sequencing methods that provide long-read data decreases and their read-depth and accuracy increases, they are probably considered the...
However, the identification and resolution of the structure of cancer genomic rearrangements remain challenging even with whole genome sequencing.doi:10.1186/s13073-017-0447-8Stephanie U. GreerLincoln D. NadauldBilly T. LauJiamin ChenChristina Wood-Bouwens...
Genotyping recombinant individuals, either by 49 classical methods28, reduced representation sequencing29,30, or whole genome sequencing31 and 50 performing cytological analysis of meiotic cells24 represent the common methods for determining CO 51 locations and frequencies. However, none of these methods ...
We also resolve the structure of the EML4-ALK gene fusion in the NCI-H2228 cancer cell line using phased exome sequencing. Finally, we assign genetic aberrations to specific megabase-scale haplotypes generated from whole-genome sequencing of a primary colorectal adenocarcinoma. This approach resolves...