论文信息 - Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis-Reply. - 字舞流文

Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis-Reply.

K. Jones | J. Carey | J. Friedman

[1] J. Carey,et al. Exome Sequencing and Clinical Diagnosis. , 2020, JAMA.

[2] Tyson A. Clark,et al. Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing , 2018, Human mutation.

[3] Nima Mousavi,et al. Profiling the genome-wide landscape of tandem repeat expansions , 2018, bioRxiv.

[4] Chris Shaw,et al. Detection of long repeat expansions from PCR-free whole-genome sequence data , 2016, bioRxiv.