Extended Data Fig. 3: Phasing results of two heterozygous variants in the same patient via IGV visualization and TA cloning sequencing. | Nature Medicine

Extended Data Fig. 3: Phasing results of two heterozygous variants in the same patient via IGV visualization and TA cloning sequencing.

From: Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility

Extended Data Fig. 3: Phasing results of two heterozygous variants in the same patient via IGV visualization and TA cloning sequencing.The alternative text for this image may have been generated using AI.

a, IGV visualization of mapped reads containing c.631 T > C and c.630_631del detected in TUBB8 in case OE-2110. The two heterozygous variants located in different reads and were confirmed to be in trans. b, IGV visualization of mapped reads containing c.576 C > G and c.586 C > T detected in ASTL in case OE-3134. The two P/LP variants located in different reads and were confirmed to be in trans. c, IGV visualization of mapped reads containing c.289 G > C and c.374 T > C detected in PABPC1L in case OE-3036. The two P/LP variants located in different reads and were confirmed to be in trans. d, IGV visualization of mapped reads containing c.857 G > C and c.965 G > A detected in CDC20 in case OE-0182. The two P/LP variants located in different reads and were confirmed to be in trans. e, IGV visualization of mapped reads containing c.922 T > G and c.922_930del detected in ZFP36L2 in case OE-2089. The two P/LP variants located in different reads and were confirmed to be in trans. f, TA clone sequencing results of c.1506 A > T and c.1693 G > A in FBXO43 from case OE-3113. The two P/LP variants located in different clones and were confirmed to be in trans.

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