Clinical exome performance for reporting secondary genetic findings. [PDF]
, 2014 BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P +6 more
core +1 more source
Quantifying evolutionary constraints on B cell affinity maturation
, 2014 The antibody repertoire of each individual is continuously updated by the evolutionary process of B cell receptor mutation and selection. It has recently become possible to gain detailed information concerning this process through high-throughput ...
Bedford, Trevor +5 more
core +2 more sources
BamView: visualizing and interpretation of next-generation sequencing read alignments. [PDF]
, 2012 So-called next-generation sequencing (NGS) has provided the ability to sequence on a massive scale at low cost, enabling biologists to perform powerful experiments and gain insight into biological processes.
Berriman, Matthew +5 more
core +1 more source
HiTRACE-Web: an online tool for robust analysis of high-throughput capillary electrophoresis [PDF]
, 2013 To facilitate the analysis of large-scale high-throughput capillary electrophoresis data, we previously proposed a suite of efficient analysis software named HiTRACE (High Throughput Robust Analysis of Capillary Electrophoresis).
Cordero, Pablo +3 more
core +2 more sources
Genome-wide SNP typing of ancient DNA: Determination of hair and eye color of Bronze Age humans from their skeletal remains. [PDF]
, 2020 Objective A genome-wide high-throughput single nucleotide polymorphism (SNP) typing method was tested with respect of the applicability to ancient and degraded DNA. The results were compared to mini-sequencing data achieved through single base extension (
Dörk, T. +5 more
core +2 more sources
Next-Generation Sequencing Reveals Differentially Expressed Genes and Pathways in Urethral Cancer: Exploring A Poorly Understood Malignancy [PDF]
Journal of Urologic OncologyPurpose Primary urethral cancer (PUC) is an uncommon malignancy with scarce diagnostic and treatment options, resulting in a limited understanding of its genetic foundation. This exploratory study compares gene expression profiles between urethral cancer
Nickolas Kinachtchouk +7 more
doaj +1 more source
Chromosomal analyses of human giant diploid oocytes by next‐generation sequencing
Reproductive Medicine and Biology, 2021 Purpose Although giant oocytes (GOs) having about twice cytoplasmic volume compared with general oocytes in mammals including the human are rarely recovered, it is thought that GOs have potentially chromosomal abnormalities.
Hiroomi Kawano +3 more
doaj +1 more source
Plants, 2021 High-throughput sequencing from symptomatic tomato and pepper plants collected in Panama rendered the complete genome of the southern tomato virus (isolate STV_Panama) and bell pepper endornavirus (isolate BPEV_Panama), and almost-complete genomes of ...
Luis Galipienso +4 more
doaj +1 more source
Nucleotide bias of DCL and AGO in plant anti-virus gene silencing [PDF]
, 2010 Plant Dicer-like (DCL) and Argonaute (AGO) are the key enzymes involved in anti-virus post-transcriptional gene silencing (AV-PTGS). Here we show that AV-PTGS exhibited nucleotide preference by calculating a relative AV-PTGS efficiency on processing ...
Dalmay, Tamas +8 more
core +1 more source
Real‐time assay of ribonucleotide reductase activity with a fluorescent RNA aptamer
FEBS Letters, EarlyView.Ribonucleotide reductases (RNR) synthesize DNA building blocks de novo, making them crucial in DNA replication and drug targeting. FLARE introduces the first single‐tube real‐time coupled RNR assay, which enables isothermal tracking of RNR activity at nanomolar enzyme levels and allows the reconstruction of allosteric regulatory patterns and rapid ...
Jacopo De Capitani +4 more
wiley +1 more source