Skip to content

Commit 2bc0005

Browse files
committed
update README
1 parent 231d036 commit 2bc0005

2 files changed

Lines changed: 8 additions & 3 deletions

File tree

README.md

Lines changed: 6 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -19,7 +19,6 @@
1919
<!-- * Significant speed improvement (compiling mistake in last release) -->
2020
* Add -Oz for compressed VCF output
2121
* Add --exclude-ctg & --all-ctg; --autosome-XY is default now
22-
<!-- * Add INFO:TANDAM in VCF for tandem duplications -->
2322
* Fix lower case ref base
2423
* Fix compiling in macOS-x64
2524

@@ -54,6 +53,7 @@ man ./longcallD.1
5453
- [Build from source](#build-from-source)
5554
- [Usage](#usage)
5655
- [Variant calling with PacBio HiFi/Nanopore long reads](#variant-calling-with-pacbio-hifinanopore-long-reads)
56+
- [Low allele-frequency mosaic variant calling](#low-allele-frequency-mosaic-variant-calling)
5757
- [Region-specific variant calling](#region-specific-variant-calling)
5858
- [Variant calling and output phased long reads](#variant-calling-and-output-phased-long-reads)
5959
- [Variant calling from remote files](#variant-calling-from-remote-files)
@@ -66,6 +66,11 @@ LongcallD is a **local-haplotagging-based variant caller** designed for detectin
6666
using long-read sequencing data. It supports both **PacBio HiFi** and **Oxford Nanopore** reads.
6767

6868
LongcallD phases long reads into haplotypes using SNPs and small indels before calling SVs. It outputs phased variant calls in VCF format, including SNPs, small indels, and large SVs (currently only supporting insertions and deletions).
69+
70+
LongcallD (≥v0.0.5) can also call low-allele-frequency mosaic variant when `-s/--mosaic` is used.
71+
Currently, only SNVs and large indels are supported, no mosaic small indels will be called.
72+
Specifically, longcallD can sensitively identify mosaic mobile element insertions (MEIs).
73+
Providing the annotation sequence of common mobile elements, i.e., Alu/L1/SVA, using `-T` is highly recommanded, which is included [here](https://github.com/yangao07/longcallD/tree/main/anno);
6974
## Installation
7075

7176
### Pre-built executables (recommended)

src/collect_var.c

Lines changed: 2 additions & 2 deletions
Original file line numberDiff line numberDiff line change
@@ -1623,7 +1623,7 @@ int make_cand_vars_from_baln0(const call_var_opt_t *opt, bam_chunk_t *chunk, hts
16231623
i += gap_len;
16241624
continue;
16251625
}
1626-
int is_homopolymer_indel = 0, tsd_len = 0, polya_len = 0; uint8_t *tsd_seq=NULL; hts_pos_t tsd_pos1=-1, tsd_pos2=-1; int te_seq_i=-1, te_is_rev;
1626+
int is_homopolymer_indel = 0, tsd_len = 0, polya_len = 0; uint8_t *tsd_seq=NULL; hts_pos_t tsd_pos1=-1, tsd_pos2=-1; int te_seq_i=-1, te_is_rev=-1;
16271627
if (gap_len >= min_sv_len) tsd_len = collect_te_info_from_cons(opt, chunk, ref_pos, i, BAM_CINS, gap_len, cons_msa_seq, &tsd_seq, &tsd_pos1, &tsd_pos2, &polya_len, &te_seq_i, &te_is_rev);
16281628
else is_homopolymer_indel = var_is_homopolymer_indel(chunk, ref_pos, BAM_CINS, 0, gap_len, cons_msa_seq+i);
16291629
make_cand_vars0((*cand_vars) + n_vars, tid, ref_pos, BAM_CINS, 2, 0, 0, gap_len, cons_msa_seq+i, is_homopolymer_indel, tsd_len, tsd_seq, tsd_pos1, tsd_pos2, polya_len, te_seq_i, te_is_rev);
@@ -1639,7 +1639,7 @@ int make_cand_vars_from_baln0(const call_var_opt_t *opt, bam_chunk_t *chunk, hts
16391639
i += gap_len; ref_pos += gap_len;
16401640
continue;
16411641
}
1642-
int is_homopolymer_indel = 0, tsd_len = 0, polya_len = 0; uint8_t *tsd_seq=NULL; hts_pos_t tsd_pos1=-1, tsd_pos2=-1; int te_seq_i=-1, te_is_rev;
1642+
int is_homopolymer_indel = 0, tsd_len = 0, polya_len = 0; uint8_t *tsd_seq=NULL; hts_pos_t tsd_pos1=-1, tsd_pos2=-1; int te_seq_i=-1, te_is_rev=-1;
16431643
if (gap_len >= min_sv_len) tsd_len = collect_te_info_from_cons(opt, chunk, ref_pos, i, BAM_CDEL, gap_len, cons_msa_seq, &tsd_seq, &tsd_pos1, &tsd_pos2, &polya_len, &te_seq_i, &te_is_rev);
16441644
else is_homopolymer_indel = var_is_homopolymer_indel(chunk, ref_pos, BAM_CDEL, gap_len, 0, NULL);
16451645
make_cand_vars0((*cand_vars)+n_vars, tid, ref_pos, BAM_CDEL, 2, gap_len, 0, 0, NULL, is_homopolymer_indel, tsd_len, tsd_seq, tsd_pos1, tsd_pos2, polya_len, te_seq_i, te_is_rev);

0 commit comments

Comments
 (0)