ReviewHuman heredity2016
Non-Coding Loss-of-Function Variation in Human Genomes.
Review in Human heredity, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- Genome characteristics and identification of reproduction-related genes in Southwest meat goats.BMC genomics · 2026Article
- Mutation patterns and prognostic potentiality of homologous recombination repair genes in gliomas.BMC cancer · 2025Article
- Neural Cues and Genomic Clues: NGS Insights into Neurogenic Sarcopenia and Muscle Atrophy.International journal of molecular sciences · 2025Review
- Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting.Human genetics · 2025Article
- Chromosomal scale assembly reveals localized structural variants in avian caecal coccidian parasite Eimeria tenella.Scientific reports · 2023Article
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- Aberrant splicing prediction across human tissues.Nature genetics · 2023Article
- Artificial intelligence-based approaches for the detection and prioritization of genomic mutations in congenital surgical diseases.Frontiers in pediatrics · 2023Review
- Deep learning-assisted genome-wide characterization of massively parallel reporter assays.Nucleic acids research · 2022Article
- Insights into rheumatic diseases from next-generation sequencing.Nature reviews. Rheumatology · 2019Review
- NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans.Genome biology · 2019Article
- Lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon.Biomolecules · 2018Article
- Rare non-coding variants are associated with plasma lipid traits in a founder population.Scientific reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Whole-genome and exome sequencing in human populations has revealed the tolerance of each gene for loss-of-function variation. By understanding this tolerance, it has become increasingly possible to identify genes that would make safe therapeutic targets and to identify rare genetic risk factors and phenotypes at the scale of individual genomes. To date, the vast majority of surveyed loss-of-function variants are in protein-coding regions of the genome mainly due to the focus on these regions by exome-based sequencing projects and their relative ease of interpretability. As whole-genome sequencing becomes more prevalent, new strategies will be required to uncover impactful variation in non-coding regions of the genome where the architecture of genome function is more complex. In this review, we investigate recent studies of loss-of-function variation and emerging approaches for interpreting whole-genome sequencing data to identify rare and impactful non-coding loss-of-function variants.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.