www.nature.com - Validated a widely accessible approach that can be used to establish functional causality for noncoding sequence variants identified by GWASs.
https://www.nature.com/articles/nm.3975
Scientists have reconstructed the genome of an ancient human who lived nearly 5,700 years ago in Southern Denmark from the birch pitch- an ancient tar-like substance.
github.com - genome simulation across a population with zeta-distributed allele frequency, snps, insertions, deletions, and multi-nucleotide polymorphisms
More at https://github.com/ekg/mutatrix
./mutatrix -S sample -P test/ -p 2 -n 10 reference.fasta
www.sequenceontology.org - We have developed the Sequence Ontology Bioinformatics Analysis (SOBA) tool to provide a simple statistical and graphical summary of an annotated genome. We envisage its use during annotation jamborees, genome comparison and for use by developers...
In the Svardal lab they are interested how the astonishing natural diversity we see on earth came into being, by which forces it formed and how it is changing today. Hence, they are trying to understand the process of evolution, with mathematical...
github.com - HapSolo, that identifies secondary contigs and defines a primary assembly based on multiple pairwise contig alignment metrics. HapSolo evaluates candidate primary assemblies using BUSCO scores and then distinguishes among candidate assemblies using...
Lab focus on understanding how organisms adapt to their environments. They combine omics approaches with detailed molecular and phenotypic analyses to get a comprehensive picture of adaptation. Our aim at being internationally recognized as a...
www.ncbi.nlm.nih.gov - Install and use the NCBI Datasets command line tools
The NCBI Datasets datasets command line tools are datasets and dataformat .
Use datasets to download biological sequence data across all domains of life from...
crossmap.sourceforge.net - CrossMap is a program for genome coordinates conversion between different assemblies (such as hg18 (NCBI36) <=> hg19 (GRCh37)). It supports commonly used file formats...