Quality metrics of short and long read genome sequencing.

Quality metrics of short and long read genome sequencing.

<p>SR: short-read genome sequencing, LR: long-read genome sequencing, SNV: single nucleotide variant, indel: short insertion/deletion.</p> <p>(XLSX)</p>

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Bibliographic Details
Main Author:	François Lecoquierre (12082018) (author)
Other Authors:	Nathalie Drouot (10930069) (author), Sophie Coutant (234244) (author), Olivier Quenez (3282843) (author), Steeve Fourneaux (20968497) (author), Fanny Jumeau (1538272) (author), Nathalie Rives (494769) (author), Françoise Charbonnier (20968500) (author), Céline Derambure (786435) (author), Anne Boland (151261) (author), Robert Olaso (82489) (author), Vincent Meyer (141691) (author), Jean-François Deleuze (3626111) (author), Alice Goldenberg (8078654) (author), Anne-Marie Guerrot (690555) (author), Camille Charbonnier (8432697) (author), Gaël Nicolas (3873235) (author)
Published:	2025
Subjects:	Genetics Biotechnology Evolutionary Biology Developmental Biology Cancer Virology Biological Sciences not elsewhere classified Chemical Sciences not elsewhere classified systematic deep sequencing remaining 230 showed rare diseases mediated de novo </ 2 &# 8211 1 &# 8211 paternally phased dnm variant allele fractions isolated pathogenic variants 5 trios ), 5 per trio maternally phased variants read genome sequencing precision genetic counselling dnms via short expected paternal bias wide phased variants recurrence risk assessment high recurrence risk paternal sperm exclusively parental germline mosaicism wide phased genetic counselling paternal bias recurrence risk germline mosaicism fourteen variants variant phasing targeted resequencing subsequent pregnancies studied mostly sperm samples sperm dna significant impact revealed 20 precise quantification parental blood large set individual genomes individual dnms human health genomic medicine dnms occur developmental disorders critical step categorize dnms 80 %.
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