… They identified this relative enrichment in exons, though the strength varied across
populations. Additionally, they observed that conserved exons in recombination cold spots are …

… of the 29 genes located at the selective sweeps identified in this study and the other five
located within 200 kb from the identified selective sweeps. However, of the 29 genes, 26 were …

… Such genes can be identified by observing intolerance to loss… protein type 1 subunit alpha,
2,009 amino acids), each of … For example, deleterious mutation of immune system genes …

… an important part of the human genome. Current evidence … third area, assigning biological
roles to the identified genes … larger fraction of deleterious mutations in TFBSs than in coding …

… A CADD (PHRED-like scaled) score ≥ 20 indicates that a substitution is predicted to be
among the 1% most deleterious in the human genome. Therefore, CADD variants with scores ≥ …

… At present, we only know that the mutation carried by the extinct individual should be deleterious,
but we do not know what exactly the deleterious … identified 17 792 derived mutations in …

… the most deleterious structural cancer mutations, … Human Genome Variation Society’s
guidelines using the NM_000546.5 transcript sequence and the full-length protein NP_000537.3 […

… The recent identification of somatic gene recombination(SGR) in human neurons affecting
… -insertions into new, potentially deleterious genomic locations. Additional risk factors would …

… Asian populations are under-represented in human genomics … We identified 238 (2.63%)
individuals harbouring at least … missense and cryptic splicing variants with predicted deleterious …

… The TWBv2 array includes deleterious germline variants in several cancer-predisposition …
subject at the first interview, we still identified 16 pathogenic variants in 13 genes associated …