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Reference genomes
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Cancerous cells’ identity is determined via a mixture of multiple factors such as genomic variations, epigenetics, and the regulatory variations that are involved in transcription. The differences in transcriptome expression as well as abnormal structures in peptides determine phenotypical differences.
22p
vishanshan
27-06-2024
3
1
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Exome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However, identification of copy number variants (CNVs) using ES data remains challenging. The purpose of this study is to understand the contribution of CNVs and copy neutral runs of homozygosity (ROH) in molecular diagnosis of patients referred for ES.
17p
vibransone
28-03-2024
3
1
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Here, we present the Northeast Asian Reference Database (NARD), including whole-genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and Hong Kong. NARD provides the genetic diversity of Korean (n = 850) and Mongolian (n = 384) ancestries that were not present in the 1000 Genomes Project Phase 3 (1KGP3).
10p
vibransone
28-03-2024
2
2
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Patient stratification based on molecular subtypes is an important strategy for cancer precision medicine. Deriving clinically informative cancer molecular subtypes from transcriptomic data generated on whole tumor tissue samples is a non-trivial task, especially given the various non-cancer cellular elements intertwined with cancer cells in the tumor microenvironment.
22p
vibransone
28-03-2024
3
2
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Accurate lung cancer classification is crucial to guide therapeutic decisions. However, histological subtyping by pathologists requires tumor tissue—a necessity that is often intrinsically associated with procedural difficulties. The analysis of circulating tumor DNA present in minimal-invasive blood samples, referred to as liquid biopsies, could therefore emerge as an attractive alternative.
12p
vibransone
28-03-2024
6
2
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Onco-proteogenomics aims to understand how changes in a cancer’s genome influences its proteome. One challenge in integrating these molecular data is the identification of aberrant protein products from massspectrometry (MS) datasets, as traditional proteomic analyses only identify proteins from a reference sequence database.
12p
vioraclene
31-03-2024
6
2
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A key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor.
18p
vioraclene
31-03-2024
2
1
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Metagenome sampling bias for geographical location and lifestyle is partially responsible for the incomplete catalog of reference genomes of gut microbial species. Thus, genome assembly from currently underrepresented populations may effectively expand the reference gut microbiome and improve taxonomic and functional profiling.
20p
vibransone
28-03-2024
5
2
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Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in defining lethal variants in humans.
11p
vibransone
28-03-2024
3
2
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Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referring clinician to discuss new diagnostic opportunities in due time.
10p
viellison
28-03-2024
3
2
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The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities.
21p
viellison
28-03-2024
3
2
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Ebook "Genomics of plant genetic resources - Volume 1: Managing, sequencing and mining genetic resources" collects 48 highly interdisciplinary articles describing how genomics improves our capacity to characterize and harness natural and artificially induced variation in order to boost crop productivity and provide consumers with high-quality food. This book will be an invaluable reference for all those interested in managing, mining and harnessing the genetic richness of plant genetic resources.
711p
manmanthanhla0201
26-02-2024
4
1
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Ebook "Plant disease epidemiology: Facing challenges of the 21st Century" provides an overview of some of the latest research in plant disease epidemiology from researchers at the cutting edge of this important discipline. Plant disease epidemiologists have a strong scientific tradition in studying climate-pathogen-disease relationships. Biodiversity is also of global concern. The decline of global biodiversity that is currently taking place has been referred to as the sixth great extinction process our planet has experienced during its history, but this time, it is man-made.
137p
tachieuhoa
28-01-2024
3
2
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Ebook "Microbial biofilms: Omics biology, antimicrobials and clinical implications" is a comprehensive survey of microbial biofilms and their role in human health and disease with contributions from world renowned experts in molecular microbiology, proteomics, genomics, metabolomics and infectious diseases. The book is intended to serve as a guide for students, as well as a reference for researchers, clinicians and industry professionals.
291p
lucchinguyen
28-12-2023
6
4
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Ebook Molecular medical parasitology: Part 1 presents the following content: molecular biology; biochemistry and cell biology: protozoa;...Please refer to the documentation for more details.
307p
chankora
16-06-2023
5
2
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In this paper we present IntroMap, a bioinformatics pipeline for the screening of candidate plants through the application of signal processing techniques to NGS data, using alignment to a reference genome sequence (annotation is not required) that shares homology with the recurrent parental cultivar, and without the need for de novo assembly of the read data or variant calling.
12p
vinarcissa
21-03-2023
6
1
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Accurate imputation plays a major role in genomic studies of livestock industries, where the number of genotyped or sequenced animals is limited by costs. This study explored methods to create an ideal reference population for imputation to Next Generation Sequencing data in cattle.
12p
vinarcissa
21-03-2023
4
1
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Consequences of splitting whole-genome sequencing effort over multiple breeds on imputation accuracy
The aim of this study was to determine the consequences of splitting sequencing effort over multiple breeds for imputation accuracy from a high-density SNP chip towards whole-genome sequence. Such information would assist for instance numerical smaller cattle breeds, but also pig and chicken breeders, who have to choose wisely how to spend their sequencing efforts over all the breeds or lines they evaluate.
9p
vinarcissa
21-03-2023
4
1
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In a natural population, the alleles of multiple tightly linked loci on the same chromosome co-segregate and are passed non-randomly from generation to generation. Capitalizing on this phenomenon, a group of mapping methods, commonly referred to as the linkage disequilibrium-based mapping (LD mapping), have been developed recently for detecting genetic associations.
9p
vinarcissa
21-03-2023
2
1
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Genotype imputation has become a standard practice in modern genetic research to increase genome coverage and improve the accuracy of genomic selection (GS) and genome-wide association studies (GWAS).
14p
vinarcissa
21-03-2023
3
1
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