Pacific Biosciences (pacbio) - Genetic Mutations

Relevant Publications

Benchmarking short-, long- and hybrid-read assemblers for metagenome sequencing of complex microbial communities.

Issue Release: 2024

Direct transposition of native DNA for sensitive multimodal single-molecule sequencing.

Issue Release: 2024

Cutting edge tools in the field of soil microbiology.

Issue Release: 2024

Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing.

Issue Release: 2024

Fine mapping of RNA isoform diversity using an innovative targeted long-read RNA sequencing protocol with novel dedicated bioinformatics pipeline.

Issue Release: 2024

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of mutations in patients with 21-OHD.

Issue Release: 2024

Thorough molecular configuration analysis of noncanonical AAV genomes in AAV vector preparations.

Issue Release: 2024

Comprehensive assessment of 11 de novo HiFi assemblers on complex eukaryotic genomes and metagenomes.

Issue Release: 2024

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies.

Issue Release: 2024

Whole-genome sequencing of Ganoderma boninense, the causal agent of basal stem rot disease in oil palm, via combined short- and long-read sequencing.

Issue Release: 2024

Local read haplotagging enables accurate long-read small variant calling.

Issue Release: 2024

Chromosome-scale reference genome of an ancient landrace: unveiling the genetic basis of seed weight in the food legume crop pigeonpea ().

Issue Release: 2024

Giraffe: A tool for comprehensive processing and visualization of multiple long-read sequencing data.

Issue Release: 2024

Comparison of short-read and long-read next-generation sequencing technologies for determining HIV-1 drug resistance.

Issue Release: 2024

Global Invasion History and Genomic Signatures of Adaptation of the Highly Invasive Sycamore Lace Bug.

Issue Release: 2024

Construction and evaluation of a new rat reference genome assembly, GRCr8, from long reads and long-range scaffolding.

Issue Release: 2024

Expression Profiles of Housekeeping Genes and Tissue-Specific Genes in Different Tissues of Chinese Sturgeon ().

Issue Release: 2024

The semen microbiome of miniature pony stallions.

Issue Release: 2024

Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity.

Issue Release: 2024

Advancements in long-read genome sequencing technologies and algorithms.

Issue Release: 2024

Can Neutral Mutations Become Beneficial or Harmful?

What is the Role of Epigenetics in Brain Development?

What Are Some Examples of Genetic Disorders Caused by Mutations?

How is Hemophilia Diagnosed?

What are Common Applications of Gene Cloning?

What Causes Sickle Cell Disease?

What are the Future Directions?

What is Gene Amplification?

Can Mutations in Non-Coding Regions Cause Diseases?

What are the Symptoms of Sickle Cell Disease?

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