If appropriate, each sample has indicated family and relationship: P -patient, B -brother, F -father, Sanger.Junc is the sequencing results of Figure 2 C. PacBio.Junc indicates the breakpoint haplotyp
Testis-expressed gene 11 (TEX11) mutation has been associated with nonobstructive azoospermia (NOA) and meiotic arrest. An analogous mutation of TEX11 in the mouse impairs meiosis and can be rescued b
The third-generation sequencing-based approach termed CATSA showed great advantages compared to conventional genetic testing in carrier screening of thalassemia.