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Splice variation

概要
Splice variation document repository
95 件の結果
Workflow overview: direct RNA sequencingWorkflow overview

Workflow overview: direct RNA sequencing

This end-to-end workflow provides a simple method to characterise RNA modifications from a human blood research sample using direct RNA sequencing.

Getting started guide: bulk transcriptomicsGetting started guide

Getting started guide: bulk transcriptomics

This guide introduces cDNA and direct RNA Oxford Nanopore sequencing, for ultra-rich transcriptomic data without compromise.

Long-read spatial transcriptomics of patient-derived ccRCC organoids identifies heterogeneity and transcriptional remodelling following treatmentPublication

Long-read spatial transcriptomics of patient-derived ccRCC organoids identifies heterogeneity and transcriptional remodelling following treatment

Publication: Long-read spatial transcriptomics of patient-derived clear cell renal cell carcinoma organoids identifies heterogeneity and transcriptional remodelling following NUC-7738 treatment

Deep intronic SVA_E insertion identified as the most common pathogenic variant associated with Canavan disease: a diagnostic blind spotPublication

Deep intronic SVA_E insertion identified as the most common pathogenic variant associated with Canavan disease: a diagnostic blind spot

Publication: Deep intronic SVA_E insertion identified as the most common pathogenic variant associated with Canavan disease: a diagnostic blind spot

A spatial long-read approach at near-single-cell resolution reveals developmental regulation of splicing and polyadenylation sitesPublication

A spatial long-read approach at near-single-cell resolution reveals developmental regulation of splicing and polyadenylation sites

Publication: A spatial long-read approach at near-single-cell resolution reveals developmental regulation of splicing and polyadenylation sites in distinct cortical layers and cell types

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcriptPublication

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

Publication: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanismsPublication

Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms

Publication: Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanisms

Cell-specific RNA isoform remodelling in the ageing mouse brainPublication

Cell-specific RNA isoform remodelling in the ageing mouse brain

Publication: Cell-specific RNA isoform remodelling in the ageing mouse brain

scnanoseq: an nf-core pipeline for Oxford Nanopore single-cell RNA sequencingPublication

scnanoseq: an nf-core pipeline for Oxford Nanopore single-cell RNA sequencing

Publication: scnanoseq: an nf-core pipeline for Oxford Nanopore single-cell RNA sequencing

wf-aav-qc

This workflow takes reads sequenced from adeno-associated virus (rAAV) vector preps and does some basic quality control checks.

Workflow overview: single-cell transcriptomicsWorkflow overview

Workflow overview: single-cell transcriptomics

This end-to-end workflow provides a simple solution for single-cell transcriptome analysis from 10x Genomics cDNA with library preparation in approximately three hours.

Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterisation of large-scale rearrangementPublication

Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterisation of large-scale rearrangement

Publication: Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterisation of large-scale rearrangement for the diagnosis of cancer predisposition

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