Settling the score: variant prioritization and Mendelian disease

K Eilbeck, A Quinlan, M Yandell - Nature Reviews Genetics, 2017 - nature.com
When investigating Mendelian disease using exome or genome sequencing, distinguishing
disease-causing genetic variants from the multitude of candidate variants is a complex …

A beginner's guide to eukaryotic genome annotation

M Yandell, D Ence - Nature Reviews Genetics, 2012 - nature.com
The falling cost of genome sequencing is having a marked impact on the research
community with respect to which genomes are sequenced and how and where they are …

[HTML][HTML] The Chinese pine genome and methylome unveil key features of conifer evolution

S Niu, J Li, W Bo, W Yang, A Zuccolo, S Giacomello… - Cell, 2022 - cell.com
Conifers dominate the world's forest ecosystems and are the most widely planted tree
species. Their giant and complex genomes present great challenges for assembling a …

De novo assembly, annotation, and comparative analysis of 26 diverse maize genomes

MB Hufford, AS Seetharam, MR Woodhouse… - Science, 2021 - science.org
We report de novo genome assemblies, transcriptomes, annotations, and methylomes for
the 26 inbreds that serve as the founders for the maize nested association mapping …

Araport11: a complete reannotation of the Arabidopsis thaliana reference genome

CY Cheng, V Krishnakumar, AP Chan… - The Plant …, 2017 - Wiley Online Library
The flowering plant Arabidopsis thaliana is a dicot model organism for research in many
aspects of plant biology. A comprehensive annotation of its genome paves the way for …

[HTML][HTML] The genome of Chenopodium quinoa

DE Jarvis, YS Ho, DJ Lightfoot, SM Schmöckel, B Li… - Nature, 2017 - nature.com
Chenopodium quinoa (quinoa) is a highly nutritious grain identified as an important crop to
improve world food security. Unfortunately, few resources are available to facilitate its …

Genome annotation and curation using MAKER and MAKER‐P

MS Campbell, C Holt, B Moore… - Current protocols in …, 2014 - Wiley Online Library
This unit describes how to use the genome annotation and curation tools MAKER and
MAKER‐P to annotate protein‐coding and noncoding RNA genes in newly assembled …

[HTML][HTML] MAKER2: an annotation pipeline and genome-database management tool for second-generation genome projects

C Holt, M Yandell - BMC bioinformatics, 2011 - Springer
Background Second-generation sequencing technologies are precipitating major shifts with
regards to what kinds of genomes are being sequenced and how they are annotated. While …

[HTML][HTML] Review on the computational genome annotation of sequences obtained by next-generation sequencing

GF Ejigu, J Jung - Biology, 2020 - mdpi.com
Simple Summary Due to the development of high-throughput sequencing technologies,
computational genome annotation of sequences has become one of the principal research …

[HTML][HTML] Environmental gradients reveal stress hubs pre-dating plant terrestrialization

A Dadras, JMR Fürst-Jansen, T Darienko, D Krone… - Nature Plants, 2023 - nature.com
Plant terrestrialization brought forth the land plants (embryophytes). Embryophytes account
for most of the biomass on land and evolved from streptophyte algae in a singular event …