Clinical Genomics

Next Generation Sequencing technology allows us to sequence whole human genomes to look for genetic variants that may explain disease conditions in patients with genetic diseases.

Our lab leads a clinical genomics programme where we have devised a multi-gene test panel for patients with Inherited Cardiac Conditions (ICC). This has formed the basis of Singapore’s first ICC clinic which is run at the National University Heart Centre.

We are also working to apply Clinical Genomics as diagnostics for Rare Diseases, collaborating with the Clinical Genetics Departments at NUHkids (with A/Prof Denise Goh) and KK Women’s and Children’s Hospital (with A/Profs Angeline Lai and Saumya Jamuar).


Wu D, Dou J, Chai X, Bellis C, Wilm A, Shih CC, Soon WWJ, Bertin N, Lin CB, Khor CC, DeGiorgio M, Cheng S, Bao L, Karnani N, Hwang WYK, Davila S, Tan P, Shabbir A, Moh A, Tan EK, Foo JN, Goh LL, Leong KP, Foo RSY, Lam CSP, Richards AM, Cheng CY, Aung T, Wong TY, Ng HH; SG10K Consortium, Liu J, Wang C. Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore. Cell. 2019 Oct 17;179(3):736-749.e15. doi: 10.1016/j.cell.2019.09.019.

Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RS, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr. Genetic Mosaicism in Calmodulinopathy. Circ Genom Precis Med. 2019 Sep;12(9):375-385. doi: 10.1161/CIRCGEN.119.002581. Epub 2019 Aug 27.

Chew YR, Lim JY, Teoh OH, Chen CK, Foo R, Lai AH, Jamuar SS. Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype. Clin Dysmorphol. 2019 Mar 26.

Bylstra Y, Kuan JL, Lim WK, Digambar BJ, Tel JX, Davila S, Teh BT, Rozen S, Tan E-C, Liew WKM, Yeo KK, Tan P, Saw SM, Cheng CY, Cook S, Foo R, Jamuar SS. Population Genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. Genet Med. 2018. Jul 2.

Kam S, Bylstra Y, Forrest L, Macciocca I, Foo R. Experience of Asian males communicating cardiac genetic risk within the family. J  Community Genet. 2018 Jul;9(3):293-303

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J Med Genet. 2017 Nov 2. pii: jmedgenet-2017-104946. doi: 10.1136/jmedgenet-2017-104946.

Brett M, Lai AH, Ting TW, Tan AM, Foo R, Jamuar S, Tan EC. Acute lymphoblastic leukemia in a child with a de novo germline GNB1 mutation. Am J Med Genet A. 2016 Oct 19. (IF: 6.335)

J Lim, M Zafra, J Mocanu, G de Lima Lopes, R Foo, I Umareddy, A Jha, L Hickinbotham. Preparing health systems in Southeast and East Asia for new paradigms of care / personalised medicine in cancer: are healthy systems ready for evolving cancer management? J Asian Public Policy. Published online Aug 2016.

Izumi K, Brett M, Nishi E, Foo R, Passemard S, Tan E-C, El Ghouzzi V, Shirahige K. ARCN1 mutations cause a recognizable craniofacial syndrome due to COPI-mediated transport defects. Am J Hum Genet. 2016. Aug 4;99(2):451-9. (IF: 11.202)

Jamuar S, Kuan JL, Brett M, Tiang Z, Tan W, Lim JY, Kein W, Javed A, Liew WK, Law HY, Tan ES, Lai A, Ng I, Teo YY, Venkatesh B, Reversade B, Tan EC, Foo R. Incidentalome from Genomic Sequencing: A barrier to personalized medicine? EBioMedicine. 2016 Feb 4;5:211-216. (IF:

R Bhattacharyya, AM Tan, MY Chan, R Foo, S Jamuar, R Iyer. T-cell receptor αβ and CD19 depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. Bone Marrow Transplant. 2016 May;51:753-754.(IF: 3.570)

Asadi M, Foo R, Samienasab MR, Salehi AR, Kheirollahi M, Khanahmad H, Salehi R. Genetic analysis of an Iranian family with hereditary cardiac arrhythmias by next generation sequencing. Adv Biomed Res. 2016 Mar 16;5:55.

Zenia, Louis, Edita, Swati

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