Search Results - EGA European Genome-Phenome Archive

Sperm_PacBio_CCS_sequencing

PacBio circular consensus sequencing (CCS) produces long reads with unparalleled base accuracy. Longer read length enables confident placement of reads to the reference genome and this allows nucleotide resolution detection of structural rearrangements. Our internal assessment of PacBio CCS base accuracy shows that PacBio CCS reads can be used for single molecule somatic mutation detection. We will take advantage of these PacBio CCS read properties to attempt single molecule meiotic recombination and gene conversion detection and define meiotic recombination and gene conversion rate. In addition, we will be able to use the single molecule somatic mutation detection method to screen for pathogenic de novo mutations. In the pilot phase, we will be sequencing sperm samples from three different individuals to determine the individual and age effect on meiotic recombination and gene conversion rate.

Study EGAS00001004958

12300 results for "cancer rna-seq"

in 51.56 milliseconds.

Sperm_PacBio_CCS_sequencing

Genome and transcriptome sequence data from a metastatic leiomyosarcoma patient

Genome and transcriptome sequence data from a pancreatic adenocarcinoma patient

Genome and transcriptome sequence data from a metastatic fibrosarcoma patient

Genome and transcriptome sequence data from a cholangiocarcinoma patient

Genome and transcriptome sequence data from a metastatic melanoma patient

Genome and transcriptome sequence data from a primary unknown patient

Genome and transcriptome sequence data from a metastatic osteosarcoma patient

Genome and transcriptome sequence data from a neuroendocrine carcinoma patient

Genome and transcriptome sequence data from a leiomyosarcoma patient

Genome and transcriptome sequence data from a peritoneal mesothelioma patient

Genome and transcriptome sequence data from a porocarcinoma patient

Genome and transcriptome sequence data from a thymic carcinoma patient

Genome and transcriptome sequence data from a breast carcinoma patient

Genome and transcriptome sequence data from an esophageal adenocarcinoma patient

Genome and transcriptome sequence data from an endometrial carcinoma patient

Genome and transcriptome sequence data from a pancreatic adenocarcinoma patient

Genome and transcriptome sequence data from a Ewing sarcoma patient

Genome and transcriptome sequence data from a cholangiocarcinoma patient

Genome and transcriptome sequence data from a pancreatic adenocarcinoma patient

Genome and transcriptome sequence data from a myxoid liposarcoma patient

Genome and transcriptome sequence data from an osteogenic sarcoma patient

Genome and transcriptome sequence data from a follicular lymphoma patient

Genome and transcriptome sequence data from a uveal melanoma patient

Genome and transcriptome sequence data from a leiomyosarcoma patient