全基因组测序、外显子测序或靶向测序能够发现不同疾病中的DNA异常变异，从基因组方向寻找疾病的发病机制，尤其在肿瘤领域、家族性疾病方向有广泛的应用。天昊生物长期致力于医学遗传学研究，在基因及遗传分析领域积累了大量经验，为合作客户发表高水平论文提供了重要支撑。

基因组测序部分客户文章

1. A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption, Science, 2018.

2. Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification, Neuron, 2018.

3. Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1, Brain, 2018.

4. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities, The American Journal of Human Genetics, 2019.

5. Whole-exome and targeted sequencing identify ROBO1 and ROBO2 mutations as progression-related drivers in myelodysplastic syndromes, Nature Communications, 2015.

6. Genetic profiles of familial late-onset Alzheimer's disease in China: The Shanghai FLOAD study, Genes & Diseases, 2021.

基因组测序部分课件内容