Whole-exome sequencing

SNP-genotyping

Sanger sequencing

Gene-panel sequencing

High error rate per base

Low accuracy in base calling

Effective for large genomic rearrangements

Ideal for SNP identification and small variant detection

Variants that have a high frequency in a given population

Variants predicted to be benign

Homozygous variants

X-linked dominant variants

To collect and share information on genetic variants and their clinical significance

To provide patient care guidelines for every rare disease

To predict protein structure from genetic sequences

To sequence patient DNA samples directly

It enables the detection of large structural variants (SVs) and complex genomic rearrangements that are often missed by short-read sequencing

It provides higher base-calling accuracy than short-read sequencing

It eliminates the need for any bioinformatics analysis

It is the only method suitable for sequencing exomes

Cystic fibrosis

Diabetes mellitus

Huntington’s disease

Hemophilia

Both WES and gene panels sequence the whole genome at the same depth

WES focuses on the coding regions where most known disease-causing mutations occur, while panels test specific, well-established disease genes

Gene panels are less cost-effective than WES and take longer to analyze

WES sequences the entire genome, while panels only cover non-coding regions

C=0.04377/115711 (TOPMED)

T=0.343333/206 (NorthernSweden)

C=0.0319869/5361 (TOMMO)

C=0.0094588/62229 (GnomAD)

A genetic variant clearly linked to disease

A genetic change whose impact on disease risk or health is not yet known

A sequencing error with no biological meaning

A genetic variant proven to be harmless