Results 61 to 70 of about 574,806 (288)
Minimum error correction-based haplotype assembly: considerations for long read data
, 2020 The single nucleotide polymorphism (SNP) is the most widely studied type of genetic variation. A haplotype is defined as the sequence of alleles at SNP sites on each haploid chromosome.
de Ridder, Dick +2 more
core +1 more source
Explore of nanopore sequencing technology in ambiguities of HLA genotyping
Zhongguo shuxue zazhi[Objective] To resolve the ambiguities of HLA genotyping generated by next generation sequencing (NGS) using nanopore sequencing technology. [Methods] A total of 38 samples with ambiguous HLA genotyping by NGS in our laboratory were collected, and HLA-A,
CHEN Nanying +6 more
doaj +1 more source
The third generation sequencing: the advanced approach to genetic diseases
Translational Pediatrics, 2020 Genomic sequencing technologies have revolutionized mutation detection of the genetic diseases in the past few years. In recent years, the third generation sequencing (TGS) has been gaining insight into more genetic diseases owing to the single molecular and real time sequencing technology.
Xiao, Tiantian, Zhou, Wenhao
openaire +3 more sources
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
Pediatric Blood &Cancer, EarlyView.ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
Evolution of genome sequencing techniques [PDF]
, 2016 The quality and the speed for genome sequencing has advanced at the same time that technology boundaries are stretched. This advancement has been divided so far in three generations.
Goebel Vázquez, Cristina +1 more
core
Capturing the ‘ome’ : the expanding molecular toolbox for RNA and DNA library construction [PDF]
, 2018 All sequencing experiments and most functional genomics screens rely on the generation of libraries to comprehensively capture pools of targeted sequences.
Boone, Morgane +2 more
core +2 more sources
Third-generation sequencing and the future of genomics [PDF]
, 2016 AbstractThird-generation long-range DNA sequencing and mapping technologies are creating a renaissance in high-quality genome sequencing. Unlike second-generation sequencing, which produces short reads a few hundred base-pairs long, third-generation single-molecule technologies generate over 10,000 bp reads or map over 100,000 bp molecules.
Lee, Hayan +7 more
openaire +1 more source
Mapping the evolution of mitochondrial complex I through structural variation
FEBS Letters, EarlyView.Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin +2 more
wiley +1 more source
Emerging Microbes and InfectionsChikungunya virus (CHIKV) poses a significant global health threat. Effective genomic surveillance of CHIKV is critical for tracking transmission and evolution.
Kaiying Wang +10 more
doaj +1 more source
FEBS Letters, EarlyView.Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho +3 more
wiley +1 more source