Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Authors: Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen

Source: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/b6807c8412374d2aa25e893290d2b4c6

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Authors: Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium

Source: Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)

Subject Terms: Exome sequencing, Genome sequencing, Uniformity of coverage, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/e9e98a6b1dd24902a3e20ff89294d975