Reference health
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians
78/78 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
6 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 78 checked references that resolve
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Medical genetics and genomic medicine in India: current status and opportunities ahead
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Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation
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SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
resolves10.1002/ajmg.a.36735
<i>GALNS</i> mutations in Indian patients with mucopolysaccharidosis IVA
resolves10.1038/s41431-019-0551-x
A bird’s-eye view of Italian genomic variation through whole-genome sequencing
resolves10.1093/molbev/msw005
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
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A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion
resolves10.1002/humu.1380030204
Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene
resolves10.1016/S0140-6736(69)91245-8
The signed-rank (Wilcoxon) test in the rapid analysis of biological data
resolves10.1002/humu.23348
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions
resolves10.1038/nature11690
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
resolves10.1002/humu.23693
The homozygous variant c.797G>A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
resolves10.1002/ajmg.a.61414
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in <i>COL2A1</i>: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies
resolves10.1093/database/bay080
SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes
resolves10.1038/jhg.2016.12
Human genetic variation database, a reference database of genetic variations in the Japanese population
resolves10.1007/s12041-008-0002-x
Genetic landscape of the people of India: a canvas for disease gene exploration
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IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes
resolves10.1038/s41598-018-34815-8
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics
resolves10.1016/j.jcf.2005.10.002
Carrier frequency of F508del mutation of cystic fibrosis in Indian population
resolves10.1038/s41586-020-2308-7
The mutational constraint spectrum quantified from variation in 141,456 humans
resolves10.1093/nar/gkt1113
ClinVar: public archive of relationships among sequence variation and human phenotype
resolves10.1038/s41598-017-04642-4
Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population
resolves10.1093/bioinformatics/btr509
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
resolves10.1038/s41586-019-1457-z
Exome sequencing of Finnish isolates enhances rare-variant association power
resolves10.1038/nature13127
Guidelines for investigating causality of sequence variants in human disease
resolves10.1038/nature18964
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
resolves10.1093/bioinformatics/btq559
Robust relationship inference in genome-wide association studies
resolves10.1038/s41586-020-2267-z
Evaluating drug targets through human loss-of-function genetic variation
resolves10.1038/ncomms9018
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
resolves10.1093/database/baq022
IGVBrowser-a genomic variation resource from diverse Indian populations
resolves10.1002/humu.24102
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India
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Origins and frequencies of <i>SLC26A4</i> (<i>PDS</i>) mutations in east and south Asians: global implications for the epidemiology of deafness
resolves10.1038/gim.2015.30
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
resolves10.1089/gtmb.2011.0283
Mutation Analysis of the
<i>CFTR</i>
Gene in 225 Children: Identification of Five Novel Severe and Seven Reported Severe Mutations
resolves10.1038/ng.3592
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
resolves10.1186/s13059-015-0681-6
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
resolves10.1038/s10038-017-0363-1
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
resolves10.1038/jhg.2017.35
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome
resolves10.1111/j.1469-1809.2010.00569.x
North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion
resolves10.1038/sdata.2016.23
Reference genotype and exome data from an Australian Aboriginal population for health-based research
resolves10.1093/database/baw104
TMC-SNPdb: an Indian germline variant database derived from whole exome sequences
resolves10.1002/0471250953.bi1110s43
From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline
resolves10.1159/000066335
The Burden of Genetic Disorders in India and a Framework for Community Control
resolves10.1038/s41586-019-1793-z
The GenomeAsia 100K Project enables genetic discoveries across Asia
resolves10.1093/nar/gkq603
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
resolves10.1101/cshperspect.a011692
World Distribution, Population Genetics, and Health Burden of the Hemoglobinopathies
resolves10.1016/j.cell.2019.09.019
Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
resolves10.1186/gb-2010-11-11-r113
Genetic diversity in India and the inference of Eurasian population expansion
resolves10.1186/1471-2105-15-S11-S6
Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population
The 6 references without a DOI — listed, not checked
no DOI — not checkedAge of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1
no DOI — not checkedAndrews S.(2010). FASTQC. A quality control tool for high throughput sequence data.
no DOI — not checkedBeta thalassemia in India: Current status and the challenges ahead
no DOI — not checkedLi H.(2013). Aligning sequence reads clone sequences and assembly contigs with BWA‐MEM.arxiv 1303.
no DOI — not checkedR Core Team. (2018).R: A language and environment for statistical computing. R Foundation for Statistical Computing.http://www.R-project.org/. Accessed March 13 2020.
no DOI — not checkedMonogenic diseases in India
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