Results 51 to 60 of about 1,170,509 (350)

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale

open access: yesNature Genetics, 2020
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions.
Xihao Li   +457 more
semanticscholar   +1 more source

From meadows to milk to mucosa – adaptation of Streptococcus and Lactococcus species to their nutritional environments [PDF]

open access: yes, 2012
Lactic acid bacteria (LAB) are indigenous to food-related habitats as well as associated with the mucosal surfaces of animals. The LAB family Streptococcaceae consists of the genera Lactococcus and Streptococcus.
Kok, Jan,   +3 more
core   +8 more sources

Complete mitochondrial genomes of Culicoides brevitarsis and Culicoides imicola biting midge vectors of Bluetongue Virus

open access: yesMitochondrial DNA. Part B. Resources
Biting midges (Culicoides spp.) are important vectors of several insect borne arboviruses but are underrepresented in terms of availability of high-resolution genomic resources. We assembled and annotated complete mitochondrial genomes for two Culicoides
Khandaker Asif Ahmed   +19 more
doaj   +1 more source

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

open access: yesNature, 2011
Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution.
X. Puente   +63 more
semanticscholar   +1 more source

Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank

open access: yesbioRxiv, 2022
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that quickly and accurately processes large sequencing datasets and applied it to UK Biobank (UKB ...
R. Hofmeister   +3 more
semanticscholar   +1 more source

Genomic Characterization of a Wild-Type Bovine alphaherpesvirus 1 (BoAHV-1) Strain Isolated in an Outbreak in Central Italy

open access: yesViruses
Bovine alphaherpesvirus-1 (BoAHV-1) infection is common in cattle worldwide. However, information on the spread of BoAHV-1-circulating strains in Italy remains limited.
Stefano Petrini   +12 more
doaj   +1 more source

Assessment of whole genome amplification-induced bias through high-throughput, massively parallel whole genome sequencing

open access: yesBMC Genomics, 2006
Background Whole genome amplification is an increasingly common technique through which minute amounts of DNA can be multiplied to generate quantities suitable for genetic testing and analysis.
Plant Ramona N   +8 more
doaj   +1 more source

Whole Genome Sequencing in Hypoplastic Left Heart Syndrome

open access: yesJournal of Cardiovascular Development and Disease, 2022
Hypoplastic left heart syndrome (HLHS) is a genetically complex disorder. Whole genome sequencing enables comprehensive scrutiny of single nucleotide variants and small insertions/deletions, within both coding and regulatory regions of the genome ...
Jeanne L. Theis, Timothy M. Olson
doaj   +1 more source

Estimating absolute methylation levels at single-CpG resolution from methylation enrichment and restriction enzyme sequencing methods [PDF]

open access: yes, 2013
Recent advancements in sequencing-based DNA methylation profiling methods provide an unprecedented opportunity to map complete DNA methylomes. These include whole-genome bisulfite sequencing (WGBS, MethylC-seq, or BS-seq), reduced-representation ...
Cheng, Jeffrey B   +10 more
core   +2 more sources

Rapid and inexpensive whole-genome sequencing of SARS-CoV-2 using 1200 bp tiled amplicons and Oxford Nanopore Rapid Barcoding

open access: yesbioRxiv, 2020
Rapid and cost-efficient whole-genome sequencing of SARS-CoV-2, the virus that causes COVID-19, is critical for understanding viral transmission dynamics.
Nikki E. Freed   +3 more
semanticscholar   +1 more source

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