[HTML][HTML] A bioinformatic framework for immune repertoire diversity profiling enables detection of immunological status

V Greiff, P Bhat, SC Cook, U Menzel, W Kang… - Genome medicine, 2015 - Springer
Background Lymphocyte receptor repertoires are continually shaped throughout the lifetime
of an individual in response to environmental and pathogenic exposure. Thus, they may …

[PDF][PDF] The ethical aspects of exposome research: a systematic review

CW Safarlou, KR Jongsma, R Vermeulen… - …, 2023 - academic.oup.com
In recent years, exposome research has been put forward as the next frontier for the study of
human health and disease. Exposome research entails the analysis of the totality of …

Highly Efficient, Rapid and Co-CRISPR-Independent Genome Editing in Caenorhabditis elegans

H Prior, AK Jawad, L MacConnachie… - G3: Genes, Genomes …, 2017 - academic.oup.com
We describe a rapid and highly efficient method to generate point mutations in
Caenorhabditis elegans using direct injection of CRISPR-Cas9 ribonucleoproteins. This …

Neurologist comfort in the use of next-generation sequencing diagnostics: current state and future prospects

G Helman, JL Bonkowsky, A Vanderver - JAMA neurology, 2016 - jamanetwork.com
Rare diseases are an increasingly recognized source of health problems worldwide,
affecting personal and community health and a creating a substantial financial burden …

A rapid and facile pipeline for generating genomic point mutants in C. elegans using CRISPR/Cas9 ribonucleoproteins

H Prior, L MacConnachie, JL Martinez… - JoVE (Journal of …, 2018 - jove.com
The clustered regularly interspersed palindromic repeats (CRISPR)-CRISPR-associated
protein 9 (Cas9) prokaryotic adaptive immune defense system has been co-opted as a …

Informed consent and decision-making

S Schleidgen, KB Brothers - Secondary Findings in Genomic Research, 2020 - Elsevier
Researchers planning to disclose secondary genomic findings to research participants
should strive to maximize benefits and minimize harms. Informed consent is a critical step in …

Development of reference materials for noninvasive prenatal aneuploidy testing by massively parallel sequencing: a proof-of-concept study

J Blais, S Giroux, A Caron, V Clément… - The Journal of …, 2019 - academic.oup.com
Background Noninvasive prenatal aneuploidy testing (NIPT) represents the first large-scale
clinical application of massively parallel sequencing technology. However, no NIPT …

Normative values for cardiorespiratory fitness: 45 years after Bruce

JW Christle, KJ Moneghetti… - Journal of Clinical …, 2017 - meridian.allenpress.com
AR Y long-term strategy would be to invest in the development of a set of large multicenter,
regional databases incorporating real-time data to generate a constantly improving …

Toward Precision Medicine: From Clinical Genomics to iPSC Disease Modeling

Y Wu - 2017 - search.proquest.com
The ability to unveil the genetic landscape of human disease at an extraordinarily detailed
resolution through high-throughput DNA sequencing promises a transformation of medical …

[PDF][PDF] The ethical aspects of exposome research: a systematic

CW Safarlou, KR Jongsma, R Vermeulen… - researchgate.net
In recent years, exposome research has been put forward as the next frontier for the study of
human health and disease. Exposome research entails the analysis of the totality of …