Disease-causing point mutations are assumed to act predominantly through subsequent
individual changes in the amino acid sequence that impair the normal function of proteins. …

GeneID is a program to predict genes in anonymous genomic sequences designed with a
hierarchical structure. In the first step, splice sites, and start and stop codons are predicted and …

This unit describes the usage of geneid, an efficient gene‐finding program that allows for the
analysis of large genomic sequences, including whole mammalian chromosomes. These …

We present the DNA sequence of 17,367 protein-coding genes in two Neandertals from Spain
and Croatia and analyze them together with the genome sequence recently determined …

The “one-gene, one-protein” rule, coined by Beadle and Tatum, has been fundamental to
molecular biology. The rule implies that the genetic complexity of an organism depends …

The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling
in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied …

The genome of the lower eukaryote Dictyostelium discoideum comprises six chromosomes.
Here we report the sequence of the largest, chromosome 2, which at 8 megabases (Mb) …

This unit describes the usage of geneid, an efficient gene‐finding program that allows for the
analysis of large genomic sequences, including whole mammalian chromosomes. These …

A primary motivation for sequencing the mouse genome was to accelerate the discovery of
mammalian genes by using sequence conservation between mouse and human to identify …

Motivation: The numbers of finished and ongoing genome projects are increasing at a rapid
rate, and providing the catalog of genes for these new genomes is a key challenge. …