Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis
H Barseghyan, W Tang, RT Wang, M Almalvez… - Genome medicine, 2017 - Springer
Background Massively parallel DNA sequencing, such as exome sequencing, has become
a routine clinical procedure to identify pathogenic variants responsible for a patient's
phenotype. Exome sequencing has the capability of reliably identifying inherited and de
novo single-nucleotide variants, small insertions, and deletions. However, due to the use of
100–300-bp fragment reads, this platform is not well powered to sensitively identify
moderate to large structural variants (SV), such as insertions, deletions, inversions, and …
a routine clinical procedure to identify pathogenic variants responsible for a patient's
phenotype. Exome sequencing has the capability of reliably identifying inherited and de
novo single-nucleotide variants, small insertions, and deletions. However, due to the use of
100–300-bp fragment reads, this platform is not well powered to sensitively identify
moderate to large structural variants (SV), such as insertions, deletions, inversions, and …
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