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A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing

artículo científico publicado en 2019

A diploid assembly-based benchmark for variants in the major histocompatibility complex

scientific article published on 22 September 2020

A draft human pangenome reference

scientific article published on 10 May 2023

A research roadmap for next-generation sequencing informatics

artículo científico publicado en 2016

A robust benchmark for detection of germline large deletions and insertions

artículo científico publicado en 2020

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

artículo científico publicado en 2019

Achieving high-sensitivity for clinical applications using augmented exome sequencing

artículo científico publicado en 2015

Advancing Benchmarks for Genome Sequencing

scientific article published on 23 September 2015

An open resource for accurately benchmarking small variant and reference calls

scientific article published on 01 April 2019

Assuring the quality of next-generation sequencing in clinical laboratory practice

artículo científico publicado en 2012

Author Correction: A robust benchmark for detection of germline large deletions and insertions

artículo científico publicado en 2020

Author Correction: Best practices for benchmarking germline small-variant calls in human genomes

artículo científico publicado en 2019

Best practices for benchmarking germline small-variant calls in human genomes

artículo científico publicado en 2019

Challenging a bioinformatic tool's ability to detect microbial contaminants using in silico whole genome sequencing data.

artículo científico publicado en 2017

Chromosome-scale, haplotype-resolved assembly of human genomes

artículo científico publicado en 2020

Curated variation benchmarks for challenging medically relevant autosomal genes

artículo científico publicado en 2022

Current-polarized ion-selective membranes: The influence of plasticizer and lipophilic background electrolyte on concentration profiles, resistance, and voltage transients.

artículo científico publicado en 2009

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

artículo científico publicado en 2014

Interpretation of chronopotentiometric transients of ion-selective membranes with two transition times.

artículo científico publicado en 2010

Magnetic connectors for microfluidic applications

artículo científico publicado en 2009

Measuring agglomerate size distribution and dependence of localized surface plasmon resonance absorbance on gold nanoparticle agglomerate size using analytical ultracentrifugation.

artículo científico publicado en 2011

Measuring silver nanoparticle dissolution in complex biological and environmental matrices using UV–visible absorbance

artículo científico publicado en 2011

Medical implications of technical accuracy in genome sequencing

artículo científico publicado en 2016

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

artículo científico publicado en 2020

Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

artículo científico publicado en 2021

Stable nanoparticle aggregates/agglomerates of different sizes and the effect of their size on hemolytic cytotoxicity.

artículo científico publicado en 2010

Synthetic spike-in standards improve run-specific systematic error analysis for DNA and RNA sequencing

artículo científico publicado en 2012

Lista de obras de

A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing

A diploid assembly-based benchmark for variants in the major histocompatibility complex

A draft human pangenome reference

A research roadmap for next-generation sequencing informatics

A robust benchmark for detection of germline large deletions and insertions

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Achieving high-sensitivity for clinical applications using augmented exome sequencing

Advancing Benchmarks for Genome Sequencing

An open resource for accurately benchmarking small variant and reference calls

Assuring the quality of next-generation sequencing in clinical laboratory practice

Author Correction: A robust benchmark for detection of germline large deletions and insertions

Author Correction: Best practices for benchmarking germline small-variant calls in human genomes

Best practices for benchmarking germline small-variant calls in human genomes

Challenging a bioinformatic tool's ability to detect microbial contaminants using in silico whole genome sequencing data.

Chromosome-scale, haplotype-resolved assembly of human genomes

Curated variation benchmarks for challenging medically relevant autosomal genes

Current-polarized ion-selective membranes: The influence of plasticizer and lipophilic background electrolyte on concentration profiles, resistance, and voltage transients.

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

Interpretation of chronopotentiometric transients of ion-selective membranes with two transition times.

Magnetic connectors for microfluidic applications

Measuring agglomerate size distribution and dependence of localized surface plasmon resonance absorbance on gold nanoparticle agglomerate size using analytical ultracentrifugation.

Measuring silver nanoparticle dissolution in complex biological and environmental matrices using UV–visible absorbance

Medical implications of technical accuracy in genome sequencing

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

Stable nanoparticle aggregates/agglomerates of different sizes and the effect of their size on hemolytic cytotoxicity.

Synthetic spike-in standards improve run-specific systematic error analysis for DNA and RNA sequencing