Pseudogene

Pleno Deploys its RAPTOR Instrument Platform Available with TotalSeq™ Antibodies from BioLegend

Retrieved on: 
Monday, January 8, 2024

This marks the first instance of an early access version of RAPTOR with Pleno’s groundbreaking multi-omic readout technology called Hypercoding ™ verified outside of its development lab.

Key Points: 
  • This marks the first instance of an early access version of RAPTOR with Pleno’s groundbreaking multi-omic readout technology called Hypercoding ™ verified outside of its development lab.
  • The RAPTOR instrument platform utilizes Hypercoding to detect these biomarkers rapidly and efficiently at a sample throughput that is scalable from a couple dozen samples to 96.
  • To this end, Pleno and BioLegend have collaborated to integrate their technologies, facilitating a streamlined approach for customers to enable multi-omic content.
  • “We are extremely proud to see the first of our RAPTOR instruments leave the nest,” said Pieter van Rooyen, founder and CEO of Pleno.

PacBio Announces a New Informatics Analysis Method for Highly Homologous Genes

Retrieved on: 
Tuesday, March 14, 2023

MENLO PARK, Calif., March 14, 2023 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of highly accurate sequencing solutions, today announced a new informatics method that genotypes gene paralogs and pseudogenes with high accuracy. The new computational tool, named "Paraphase," enables variant calling, copy number analysis and phasing by identifying the full gene sequence of each of the haplotypes for all genes and pseudogenes of the same gene family. Many medically relevant genes fall into segmental duplications and thus have highly similar gene family members or pseudogenes. The sequence similarity often leads to error prone read alignment and variant calling.

Key Points: 
  • MENLO PARK, Calif., March 14, 2023 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of highly accurate sequencing solutions, today announced a new informatics method that genotypes gene paralogs and pseudogenes with high accuracy.
  • Many medically relevant genes fall into segmental duplications and thus have highly similar gene family members or pseudogenes.
  • SMN1 is >99.9 percent similar in sequence to its paralog, SMN2, and both genes have variable copy numbers across populations.
  • Paraphase is being extended into a genome-wide generalized paralog caller as more highly homologous genes are included.

Bio-Techne and Oxford Nanopore Technologies partner to bring innovative reproductive health and carrier screening solutions to the market

Retrieved on: 
Thursday, December 1, 2022

MINNEAPOLIS, Dec. 1, 2022 /PRNewswire/ -- Asuragen, a Bio-Techne brand (NASDAQ: TECH) and Oxford Nanopore Technologies plc (Oxford Nanopore) (LSE: ONT), today announce a collaboration to develop assays designed to deliver more accurate and reliable options for reproductive health and carrier screening. Asuragen will leverage its gold-standard PCR technology with Oxford Nanopore's any-read-length DNA sequencing capabilities to develop the first sequencing system to identify the most challenging yet high prevalence carrier genes in a single, unified workstream that today requires multiple other methods.

Key Points: 
  • MINNEAPOLIS, Dec. 1, 2022 /PRNewswire/ -- Asuragen,a Bio-Techne brand (NASDAQ: TECH) and Oxford Nanopore Technologies plc (Oxford Nanopore) (LSE: ONT), today announce a collaboration to develop assays designed to deliver more accurate and reliable options for reproductive health and carrier screening.
  • Carrier screening identifies at-risk-couples (ARCs) with pathogenic variants associated with severe genetic disorders.
  • This information can be used to determine the residual risk for passing on a condition to their children and help guide reproductive decision-making.
  • "We are really pleased to be working with Asuragen to develop more robust, reliable and accessible options for reproductive health and carrier screening," said Gordon Sanghera, Chief Executive Officer of Oxford Nanopore Technologies.

PacBio and ARUP Laboratories Collaborate in a Study to Improve Rare Disease Diagnosis

Retrieved on: 
Thursday, November 18, 2021

ARUP Laboratories has purchased a PacBio Sequel IIe system for use in the Utah NeoSeq Project .

Key Points: 
  • ARUP Laboratories has purchased a PacBio Sequel IIe system for use in the Utah NeoSeq Project .
  • Currently, the cause of more than half of rare disease cases worldwide remains unexplained.
  • Using short-read whole genome sequencing (WGS), the labs current diagnostic yield for rare disease is about 30% to 50%.
  • We are thrilled to be collaborating with ARUP Laboratories to help them with a study designed to find answers for patients with rare diseases.

Blackhawk Genomics Announces Launch of HerediSeq and PanSeq Genomic Analysis Kits

Retrieved on: 
Tuesday, November 16, 2021

SAN FRANCISCO, Nov. 16, 2021 /PRNewswire-PRWeb/ -- Blackhawk Genomics LLC, a molecular diagnostics technology company, today announced the launch of the HerediSeq and PanSeq genomic analysis kits designed to detect structural variants and elucidate difficult-to-characterize genomic regions using long-read sequencing.

Key Points: 
  • SAN FRANCISCO, Nov. 16, 2021 /PRNewswire-PRWeb/ -- Blackhawk Genomics LLC, a molecular diagnostics technology company, today announced the launch of the HerediSeq and PanSeq genomic analysis kits designed to detect structural variants and elucidate difficult-to-characterize genomic regions using long-read sequencing.
  • The HerediSeq assays use CRISPR/Cas9 technology to enrich specific genomic regions prior to sequencing, without the need for amplification.
  • Each kit can process 96 samples and data can be easily merged with Illumina or Thermo short-read sequencing for comprehensive genomic analysis.
  • Blackhawk Genomics provides practical, end-to-end experience and guidance for a full range of next-generation sequencing technologies.