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Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population

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Gene hunting in the genomic era: Approaches to diagnostic dilemmas in patients with primary immunodeficiencies

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Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance

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Ghost admixture in eastern gorillas

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A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

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Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

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How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

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Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy

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New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

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A comparison on predicting functional impact of genomic variants

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Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations

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PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

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The variation game: Cracking complex genetic disorders with NGS and omics data

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Prediction of evolutionary constraint by genomic annotations improves functional prioritization of genomic variants in maize

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Computational prediction of human deep intronic variation

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Impacts of reproductive systems on grapevine genome and breeding

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Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans

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De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

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Hepatic tristetraprolin promotes insulin resistance through RNA destabilization of FGF21

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Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease

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NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

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Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

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EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

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Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients

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Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk

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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

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HumanRECQHelicase Pathogenic Variants, Population Variation and “Missing” Diseases

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A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency

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DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation

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Next-generation sequencing for inborn errors of immunity

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Decoding the effects of synonymous variants

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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

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Hotspot mutations delineating diverse mutational signatures and biological utilities across cancer types

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Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

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An evolutionary framework for measuring epigenomic information and estimating cell-type-specific fitness consequences

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Improved measures for evolutionary conservation that exploit taxonomy distances

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A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies

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A comprehensive genomic meta-analysis identifies confirmatory role of OBSCN gene in breast tumorigenesis

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The emerging genetic landscape of cerebral palsy

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Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

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Novel idiopathic pulmonary fibrosis susceptibility variants revealed by deep sequencing

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Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives

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An analysis of mutational signatures of synonymous mutations across 15 cancer types

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Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency

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Genome-wide Regional Heritability Mapping Identifies a Locus Within the TOX2 Gene Associated With Major Depressive Disorder

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Characterization of Tumor-Suppressor Gene Inactivation Events in 33 Cancer Types

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Translating Alzheimer’s disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs

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Sequenced-based GWAS for linear classification traits in Belgian Blue beef cattle reveals new coding variants in genes regulating body size in mammals

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Prediction of cancer driver genes and mutations: the potential of integrative computational frameworks

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Identification and Comparative Analysis of ncRNAs in Human, Mouse and Zebrafish Indicate a Conserved Role in Regulation of Genes Expressed in Brain

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Building a Genome Analysis Pipeline to Predict Disease Risk and Prevent Disease

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Signatures of accelerated somatic evolution in gene promoters in multiple cancer types

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Variant Ranker: a web-tool to rank genomic data according to functional significance

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Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer’s Disease Sequencing Project

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Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans

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Pan-cancer detection of driver genes at the single-patient resolution

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Fitness Effects of Mutations: An Assessment of PROVEAN Predictions Using Mutation Accumulation Data

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Combining GWAS and TWAS to identify candidate causal genes for tocochromanol levels in maize grain

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Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant

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A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve

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Lhx6andLhx8promote palate development through negative regulation of a cell cycle inhibitor gene,p57Kip2

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Faster than Neutral Evolution of Constrained Sequences: The Complex Interplay of Mutational Biases and Weak Selection

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Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

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QueryOR: a comprehensive web platform for genetic variant analysis and prioritization

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LightCpG: a multi-view CpG sites detection on single-cell whole genome sequence data

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Systematic discovery of conservation states for single-nucleotide annotation of the human genome

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Impact of Mutation Rate and Selection at Linked Sites on DNA Variation across the Genomes of Humans and Other Homininae

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Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry

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Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement

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High genetic load without purging in caribou, a diverse species at risk

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Functional variation of thetransthyretingene among human populations and its correlation with amyloidosis phenotypes

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New Chondrosarcoma Cell Lines with Preserved Stem Cell Properties to Study the Genomic Drift During In Vitro/In Vivo Growth

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Enhancer Pleiotropy, Gene Expression, and the Architecture of Human Enhancer–Gene Interactions

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usDSM: a novel method for deleterious synonymous mutation prediction using undersampling scheme

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Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy

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Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease

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Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

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PBX‐WNT‐P63‐IRF6pathway in nonsyndromic cleft lip and palate

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Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization

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InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution

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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and aTUBB3mutationPreprint

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Article Distribution and intensity of constraint in mammalian genomic sequence

Cooper, G. M., Stone, E. A., Asimenos, G., NISC, C., Program, S., Green, E. D., Batzoglou, S., & Sidow, A. (2008)

Distribution and intensity of constraint in mammalian genomic sequence

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Genome-wide functional element detection using pairwise statistical alignment outperforms multiple genome footprinting techniques

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8.2% of the Human Genome Is Constrained: Variation in Rates of Turnover across Functional Element Classes in the Human Lineage

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