Results 31 to 40 of about 1,119,935 (184)

The Chlamydomonas genome project: A decade on [PDF]

open access: yes, 2014
The green alga Chlamydomonas reinhardtii is a popular unicellular organism for studying photosynthesis, cilia biogenesis, and micronutrient homeostasis.
Aksoy, M   +19 more
core   +1 more source

Update of the Gene Discovery Program in Schistosoma mansoni with the Expressed Sequence Tag Approach

open access: yesMemorias do Instituto Oswaldo Cruz, 1997
Continuing the Schistosoma mansoni Genome Project 363 new templates were sequenced generating 205 more ESTs corresponding to 91 genes. Seventy four of these genes (81%) had not previously been described in S. mansoni.
Élida ML Rabelo   +8 more
doaj   +1 more source

REAPR: a universal tool for genome assembly evaluation. [PDF]

open access: yes, 2013
Methods to reliably assess the accuracy of genome sequence data are lacking. Currently completeness is only described qualitatively and mis-assemblies are overlooked.
Berriman, Matthew   +5 more
core   +2 more sources

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome

open access: yesNature Communications, 2018
Clinical oncology is rapidly adopting next-generation sequencing technology for nucleotide variant and indel detection. Here the authors present a three-platform approach (whole-genome, whole-exome, and whole-transcriptome) in pediatric patients for the ...
Michael Rusch   +32 more
doaj   +1 more source

DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis

open access: yeseLife, 2013
Breast cancer genomes have revealed a novel form of mutation showers (kataegis) in which multiple same-strand substitutions at C:G pairs spaced one to several hundred nucleotides apart are clustered over kilobase-sized regions, often associated with ...
Benjamin JM Taylor   +8 more
doaj   +1 more source

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

open access: yes, 2015
Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes.
Epilepsy Phenome/Genome Project & Epi4K Consortium
core   +1 more source

From metagenomics to the metagenome: Conceptual change and the rhetoric of translational genomic research [PDF]

open access: yes, 2009
As the international genomic research community moves from the tool-making efforts of the Human Genome Project into biomedical applications of those tools, new metaphors are being suggested as useful to understanding how our genes work – and for ...
Huss, John Edward, Juengst, Eric Thomas
core   +1 more source

HLA-A*11:01:01:01, HLA-C*12:02:02:01-HLA-B*52:01:02:02, Age and Sex Are Associated With Severity of Japanese COVID-19 With Respiratory Failure

open access: yesFrontiers in Immunology, 2021
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus causing coronavirus disease 2019 (COVID-19) was announced as an outbreak by the World Health Organization (WHO) in January 2020 and as a pandemic in March 2020.
Seik-Soon Khor   +12 more
doaj   +1 more source

Complete genome sequence of Meiothermus silvanus type strain (VI-R2). [PDF]

open access: yes, 2010
Meiothermus silvanus (Tenreiro et al. 1995) Nobre et al. 1996 belongs to a thermophilic genus whose members share relatively low degrees of 16S rRNA gene sequence similarity.
Bristow, James   +32 more
core   +1 more source

The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan

open access: yesHuman Genome Variation, 2022
Accurate genotype imputation requires large-scale reference panel datasets. When conducting genotype imputation on the Japanese population, researchers can use such datasets under collaborative studies or controlled access conditions in public databases.
Tsuyoshi Hachiya   +11 more
doaj   +1 more source

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