Key changes:
- Scores for gene sensitivity to mutations have been added:
- pLI (Probability of being Loss-of-function Intolerant) — a score that estimates the probability that a gene is not sensitive to loss-of-function.
- LOEUF (Loss-of-function Observed/Expected Upper-bound Fraction) — a score that estimates the probability of how sensitive a gene is to loss-of-function.
- Missense O/E ratio (Observed/Expected ratio) — a score that compares the observed frequency of missense mutations (mutations where the altered codon codes for a different amino acid) in a gene with the expected frequency of such mutations based on statistical data for the entire population.
- Missense Z-score — a score that assesses how much the observed frequency of missense mutations in a gene deviates from the expected frequency.
- Updated the genetic variant annotator databases.
- Updated the gnomAD 4 database to version 4.1.
- Updated the ClinVar database to the state of early 2025.
Useful new features:
- For the allele frequency from gnomAD 3, data on the count of the alternative allele variant in high-quality genotypes (AC) and the total number of high-quality genotypes (AN) have been added.
- The number of samples that can be uploaded via drag-and-drop from a folder has been increased to 1000.
- Added the ability to disable read type detection.
